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GeneBe API Showcase

This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.

API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.

Documentation & Advanced Usage

Complete API documentation:docs.genebe.net/docs/api/overview/

Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/

Python client for pandas:pypi.org/project/genebe/

Java CLI for VCF files:github.com/pstawinski/genebe-cli

All tools documented at:docs.genebe.net

API Request Examples for Variant: 2-178591692-CTTG-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=178591692&ref=CTTG&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "2",
      "pos": 178591692,
      "ref": "CTTG",
      "alt": "C",
      "effect": "conservative_inframe_deletion",
      "transcript": "NM_001267550.2",
      "consequences": [
        {
          "aa_ref": "Q",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "conservative_inframe_deletion"
          ],
          "exon_rank": 303,
          "exon_rank_end": null,
          "exon_count": 363,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.60124_60126delCAA",
          "hgvs_p": "p.Gln20042del",
          "transcript": "NM_001267550.2",
          "protein_id": "NP_001254479.2",
          "transcript_support_level": null,
          "aa_start": 20042,
          "aa_end": null,
          "aa_length": 35991,
          "cds_start": 60124,
          "cds_end": null,
          "cds_length": 107976,
          "cdna_start": 60351,
          "cdna_end": null,
          "cdna_length": 109224,
          "mane_select": "ENST00000589042.5",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001267550.2"
        },
        {
          "aa_ref": "Q",
          "aa_alt": null,
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "conservative_inframe_deletion"
          ],
          "exon_rank": 303,
          "exon_rank_end": null,
          "exon_count": 363,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.60124_60126delCAA",
          "hgvs_p": "p.Gln20042del",
          "transcript": "ENST00000589042.5",
          "protein_id": "ENSP00000467141.1",
          "transcript_support_level": 5,
          "aa_start": 20042,
          "aa_end": null,
          "aa_length": 35991,
          "cds_start": 60124,
          "cds_end": null,
          "cds_length": 107976,
          "cdna_start": 60351,
          "cdna_end": null,
          "cdna_length": 109224,
          "mane_select": "NM_001267550.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000589042.5"
        },
        {
          "aa_ref": "Q",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "conservative_inframe_deletion"
          ],
          "exon_rank": 301,
          "exon_rank_end": null,
          "exon_count": 361,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.59968_59970delCAA",
          "hgvs_p": "p.Gln19990del",
          "transcript": "ENST00000446966.2",
          "protein_id": "ENSP00000408004.2",
          "transcript_support_level": 1,
          "aa_start": 19990,
          "aa_end": null,
          "aa_length": 35939,
          "cds_start": 59968,
          "cds_end": null,
          "cds_length": 107820,
          "cdna_start": 60195,
          "cdna_end": null,
          "cdna_length": 109068,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000446966.2"
        },
        {
          "aa_ref": "Q",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "conservative_inframe_deletion"
          ],
          "exon_rank": 301,
          "exon_rank_end": null,
          "exon_count": 361,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.59848_59850delCAA",
          "hgvs_p": "p.Gln19950del",
          "transcript": "ENST00000436599.2",
          "protein_id": "ENSP00000405517.2",
          "transcript_support_level": 1,
          "aa_start": 19950,
          "aa_end": null,
          "aa_length": 35899,
          "cds_start": 59848,
          "cds_end": null,
          "cds_length": 107700,
          "cdna_start": 60075,
          "cdna_end": null,
          "cdna_length": 108948,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000436599.2"
        },
        {
          "aa_ref": "Q",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "conservative_inframe_deletion"
          ],
          "exon_rank": 296,
          "exon_rank_end": null,
          "exon_count": 356,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.59566_59568delCAA",
          "hgvs_p": "p.Gln19856del",
          "transcript": "ENST00000426232.6",
          "protein_id": "ENSP00000392336.2",
          "transcript_support_level": 1,
          "aa_start": 19856,
          "aa_end": null,
          "aa_length": 35805,
          "cds_start": 59566,
          "cds_end": null,
          "cds_length": 107418,
          "cdna_start": 59793,
          "cdna_end": null,
          "cdna_length": 108666,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000426232.6"
        },
        {
          "aa_ref": null,
          "aa_alt": null,
          "canonical": false,
          "protein_coding": false,
          "strand": true,
          "consequences": [
            "intron_variant"
          ],
          "exon_rank": null,
          "exon_rank_end": null,
          "exon_count": 17,
          "intron_rank": 12,
          "intron_rank_end": null,
          "gene_symbol": "TTN-AS1",
          "gene_hgnc_id": 44124,
          "hgvs_c": "n.3364+383_3364+385delTGT",
          "hgvs_p": null,
          "transcript": "ENST00000419746.5",
          "protein_id": null,
          "transcript_support_level": 1,
          "aa_start": null,
          "aa_end": null,
          "aa_length": null,
          "cds_start": null,
          "cds_end": null,
          "cds_length": null,
          "cdna_start": null,
          "cdna_end": null,
          "cdna_length": 4592,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "pseudogene",
          "feature": "ENST00000419746.5"
        },
        {
          "aa_ref": "Q",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "conservative_inframe_deletion"
          ],
          "exon_rank": 305,
          "exon_rank_end": null,
          "exon_count": 365,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.60124_60126delCAA",
          "hgvs_p": "p.Gln20042del",
          "transcript": "ENST00000412264.2",
          "protein_id": "ENSP00000394672.2",
          "transcript_support_level": 3,
          "aa_start": 20042,
          "aa_end": null,
          "aa_length": 35991,
          "cds_start": 60124,
          "cds_end": null,
          "cds_length": 107976,
          "cdna_start": 60615,
          "cdna_end": null,
          "cdna_length": 109488,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000412264.2"
        },
        {
          "aa_ref": "Q",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "conservative_inframe_deletion"
          ],
          "exon_rank": 302,
          "exon_rank_end": null,
          "exon_count": 362,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.60040_60042delCAA",
          "hgvs_p": "p.Gln20014del",
          "transcript": "ENST00000425332.3",
          "protein_id": "ENSP00000396805.3",
          "transcript_support_level": 5,
          "aa_start": 20014,
          "aa_end": null,
          "aa_length": 35963,
          "cds_start": 60040,
          "cds_end": null,
          "cds_length": 107892,
          "cdna_start": 60267,
          "cdna_end": null,
          "cdna_length": 109140,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000425332.3"
        },
        {
          "aa_ref": "Q",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "conservative_inframe_deletion"
          ],
          "exon_rank": 300,
          "exon_rank_end": null,
          "exon_count": 360,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.59710_59712delCAA",
          "hgvs_p": "p.Gln19904del",
          "transcript": "ENST00000715174.1",
          "protein_id": "ENSP00000520370.1",
          "transcript_support_level": null,
          "aa_start": 19904,
          "aa_end": null,
          "aa_length": 35853,
          "cds_start": 59710,
          "cds_end": null,
          "cds_length": 107562,
          "cdna_start": 59937,
          "cdna_end": null,
          "cdna_length": 108810,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000715174.1"
        },
        {
          "aa_ref": "Q",
          "aa_alt": null,
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "conservative_inframe_deletion"
          ],
          "exon_rank": 253,
          "exon_rank_end": null,
          "exon_count": 313,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.55201_55203delCAA",
          "hgvs_p": "p.Gln18401del",
          "transcript": "NM_001256850.1",
          "protein_id": "NP_001243779.1",
          "transcript_support_level": null,
          "aa_start": 18401,
          "aa_end": null,
          "aa_length": 34350,
          "cds_start": 55201,
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          "cdna_start": 55428,
          "cdna_end": null,
          "cdna_length": 104301,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_001256850.1"
        },
        {
          "aa_ref": "Q",
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "conservative_inframe_deletion"
          ],
          "exon_rank": 253,
          "exon_rank_end": null,
          "exon_count": 313,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.55201_55203delCAA",
          "hgvs_p": "p.Gln18401del",
          "transcript": "ENST00000591111.5",
          "protein_id": "ENSP00000465570.1",
          "transcript_support_level": 5,
          "aa_start": 18401,
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          "aa_length": 34350,
          "cds_start": 55201,
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          "cds_length": 103053,
          "cdna_start": 55428,
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          "cdna_length": 104301,
          "mane_select": null,
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        },
        {
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          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 252,
          "exon_rank_end": null,
          "exon_count": 312,
          "intron_rank": null,
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          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.52420_52422delCAA",
          "hgvs_p": "p.Gln17474del",
          "transcript": "NM_133378.4",
          "protein_id": "NP_596869.4",
          "transcript_support_level": null,
          "aa_start": 17474,
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          "aa_length": 33423,
          "cds_start": 52420,
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          "cds_length": 100272,
          "cdna_start": 52647,
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          "cdna_length": 101520,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "NM_133378.4"
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 252,
          "exon_rank_end": null,
          "exon_count": 312,
          "intron_rank": null,
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          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.52420_52422delCAA",
          "hgvs_p": "p.Gln17474del",
          "transcript": "ENST00000342992.11",
          "protein_id": "ENSP00000343764.6",
          "transcript_support_level": 5,
          "aa_start": 17474,
          "aa_end": null,
          "aa_length": 33423,
          "cds_start": 52420,
          "cds_end": null,
          "cds_length": 100272,
          "cdna_start": 52647,
          "cdna_end": null,
          "cdna_length": 101520,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000342992.11"
        },
        {
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          "canonical": false,
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          "consequences": [
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          ],
          "exon_rank": 132,
          "exon_rank_end": null,
          "exon_count": 192,
          "intron_rank": null,
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          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.33505_33507delCAA",
          "hgvs_p": "p.Gln11169del",
          "transcript": "NM_133437.4",
          "protein_id": "NP_597681.4",
          "transcript_support_level": null,
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        },
        {
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          "exon_rank_end": null,
          "exon_count": 191,
          "intron_rank": null,
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          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.33505_33507delCAA",
          "hgvs_p": "p.Gln11169del",
          "transcript": "ENST00000342175.12",
          "protein_id": "ENSP00000340554.6",
          "transcript_support_level": 5,
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          "aa_length": 27118,
          "cds_start": 33505,
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          "cdna_start": 33507,
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          "cdna_length": 82380,
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        {
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          "consequences": [
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          ],
          "exon_rank": 132,
          "exon_rank_end": null,
          "exon_count": 192,
          "intron_rank": null,
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          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.33304_33306delCAA",
          "hgvs_p": "p.Gln11102del",
          "transcript": "NM_133432.3",
          "protein_id": "NP_597676.3",
          "transcript_support_level": null,
          "aa_start": 11102,
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          "cds_start": 33304,
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          "feature": "NM_133432.3"
        },
        {
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          "protein_coding": true,
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          ],
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          "exon_rank_end": null,
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          "transcript": "ENST00000359218.11",
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        {
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          "gene_symbol": "TTN",
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          "hgvs_c": "c.32929_32931delCAA",
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          "transcript": "NM_003319.4",
          "protein_id": "NP_003310.4",
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        },
        {
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          "consequences": [
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          "exon_rank_end": null,
          "exon_count": 191,
          "intron_rank": null,
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          "gene_symbol": "TTN",
          "gene_hgnc_id": 12403,
          "hgvs_c": "c.32929_32931delCAA",
          "hgvs_p": "p.Gln10977del",
          "transcript": "ENST00000460472.6",
          "protein_id": "ENSP00000434586.1",
          "transcript_support_level": 5,
          "aa_start": 10977,
          "aa_end": null,
          "aa_length": 26926,
          "cds_start": 32929,
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          "cdna_start": 33156,
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          "cdna_length": 82029,
          "mane_select": null,
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          "feature": "ENST00000460472.6"
        },
        {
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          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 299,
          "exon_rank_end": null,
          "exon_count": 359,
          "intron_rank": null,
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      "splice_prediction_selected": "Benign",
      "splice_source_selected": "max_spliceai",
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      "alphamissense_score": null,
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      "bayesdelnoaf_score": null,
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      "phylop100way_score": 7.969,
      "phylop100way_prediction": "Pathogenic",
      "spliceai_max_score": 0,
      "spliceai_max_prediction": "Benign",
      "dbscsnv_ada_score": null,
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      "acmg_score": 1,
      "acmg_classification": "Uncertain_significance",
      "acmg_criteria": "PM4_Supporting",
      "acmg_by_gene": [
        {
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          "criteria": [
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          "verdict": "Uncertain_significance",
          "transcript": "NM_001267550.2",
          "gene_symbol": "TTN",
          "hgnc_id": 12403,
          "effects": [
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          "inheritance_mode": "AD,AR",
          "hgvs_c": "c.60124_60126delCAA",
          "hgvs_p": "p.Gln20042del"
        },
        {
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          "benign_score": 4,
          "pathogenic_score": 0,
          "criteria": [
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          "verdict": "Likely_benign",
          "transcript": "ENST00000419746.5",
          "gene_symbol": "TTN-AS1",
          "hgnc_id": 44124,
          "effects": [
            "intron_variant"
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          "inheritance_mode": "",
          "hgvs_c": "n.3364+383_3364+385delTGT",
          "hgvs_p": null
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      ],
      "clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy type 2J,Cardiovascular phenotype,Dilated cardiomyopathy 1G,not provided,not specified",
      "clinvar_classification": "Uncertain significance",
      "clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
      "clinvar_submissions_summary": "US:4",
      "phenotype_combined": "Autosomal recessive limb-girdle muscular dystrophy type 2J;Dilated cardiomyopathy 1G|not specified|not provided|Cardiovascular phenotype",
      "pathogenicity_classification_combined": "Uncertain significance",
      "custom_annotations": null
    }
  ],
  "message": null
}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.