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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: 4-129039039-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=129039039&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"effects": [
"splice_donor_variant",
"intron_variant"
],
"gene_symbol": "SCLT1",
"hgnc_id": 26406,
"hgvs_c": "c.290+2T>C",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_144643.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.26,
"chr": "4",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.25999999046325684,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 688,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2987,
"cdna_start": null,
"cds_end": null,
"cds_length": 2067,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_144643.4",
"gene_hgnc_id": 26406,
"gene_symbol": "SCLT1",
"hgvs_c": "c.290+2T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000281142.10",
"protein_coding": true,
"protein_id": "NP_653244.2",
"strand": false,
"transcript": "NM_144643.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 688,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2987,
"cdna_start": null,
"cds_end": null,
"cds_length": 2067,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000281142.10",
"gene_hgnc_id": 26406,
"gene_symbol": "SCLT1",
"hgvs_c": "c.290+2T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_144643.4",
"protein_coding": true,
"protein_id": "ENSP00000281142.5",
"strand": false,
"transcript": "ENST00000281142.10",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 284,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1364,
"cdna_start": null,
"cds_end": null,
"cds_length": 855,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000503215.5",
"gene_hgnc_id": 26406,
"gene_symbol": "SCLT1",
"hgvs_c": "c.221+2T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424029.1",
"strand": false,
"transcript": "ENST00000503215.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 175,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 966,
"cdna_start": null,
"cds_end": null,
"cds_length": 528,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000439369.6",
"gene_hgnc_id": 26406,
"gene_symbol": "SCLT1",
"hgvs_c": "c.290+2T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395292.2",
"strand": false,
"transcript": "ENST00000439369.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 131,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2096,
"cdna_start": null,
"cds_end": null,
"cds_length": 396,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000506368.5",
"gene_hgnc_id": 26406,
"gene_symbol": "SCLT1",
"hgvs_c": "c.290+2T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424304.1",
"strand": false,
"transcript": "ENST00000506368.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 692,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2992,
"cdna_start": null,
"cds_end": null,
"cds_length": 2079,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893006.1",
"gene_hgnc_id": 26406,
"gene_symbol": "SCLT1",
"hgvs_c": "c.290+2T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563065.1",
"strand": false,
"transcript": "ENST00000893006.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 690,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2960,
"cdna_start": null,
"cds_end": null,
"cds_length": 2073,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000919934.1",
"gene_hgnc_id": 26406,
"gene_symbol": "SCLT1",
"hgvs_c": "c.290+2T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589993.1",
"strand": false,
"transcript": "ENST00000919934.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 686,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3017,
"cdna_start": null,
"cds_end": null,
"cds_length": 2061,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893004.1",
"gene_hgnc_id": 26406,
"gene_symbol": "SCLT1",
"hgvs_c": "c.290+2T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563063.1",
"strand": false,
"transcript": "ENST00000893004.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 685,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2659,
"cdna_start": null,
"cds_end": null,
"cds_length": 2058,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893007.1",
"gene_hgnc_id": 26406,
"gene_symbol": "SCLT1",
"hgvs_c": "c.290+2T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563066.1",
"strand": false,
"transcript": "ENST00000893007.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 664,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2878,
"cdna_start": null,
"cds_end": null,
"cds_length": 1995,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000919935.1",
"gene_hgnc_id": 26406,
"gene_symbol": "SCLT1",
"hgvs_c": "c.290+2T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589994.1",
"strand": false,
"transcript": "ENST00000919935.1",
"transcript_support_level": null
},
{
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"aa_length": 634,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2880,
"cdna_start": null,
"cds_end": null,
"cds_length": 1905,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000919933.1",
"gene_hgnc_id": 26406,
"gene_symbol": "SCLT1",
"hgvs_c": "c.290+2T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589992.1",
"strand": false,
"transcript": "ENST00000919933.1",
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},
{
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"aa_length": 627,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2847,
"cdna_start": null,
"cds_end": null,
"cds_length": 1884,
"cds_start": null,
"consequences": [
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"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947716.1",
"gene_hgnc_id": 26406,
"gene_symbol": "SCLT1",
"hgvs_c": "c.290+2T>C",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617775.1",
"strand": false,
"transcript": "ENST00000947716.1",
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},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2626,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000893005.1",
"gene_hgnc_id": 26406,
"gene_symbol": "SCLT1",
"hgvs_c": "c.290+2T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563064.1",
"strand": false,
"transcript": "ENST00000893005.1",
"transcript_support_level": null
},
{
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"aa_length": 489,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2019,
"cdna_start": null,
"cds_end": null,
"cds_length": 1470,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001410807.1",
"gene_hgnc_id": 26406,
"gene_symbol": "SCLT1",
"hgvs_c": "c.290+2T>C",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397736.1",
"strand": false,
"transcript": "NM_001410807.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2187,
"cdna_start": null,
"cds_end": null,
"cds_length": 1314,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000947717.1",
"gene_hgnc_id": 26406,
"gene_symbol": "SCLT1",
"hgvs_c": "c.290+2T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617776.1",
"strand": false,
"transcript": "ENST00000947717.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2259,
"cdna_start": null,
"cds_end": null,
"cds_length": 396,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001300898.2",
"gene_hgnc_id": 26406,
"gene_symbol": "SCLT1",
"hgvs_c": "c.290+2T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001287827.1",
"strand": false,
"transcript": "NM_001300898.2",
"transcript_support_level": null
},
{
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"canonical": false,
"cdna_end": null,
"cdna_length": 2999,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
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"feature": "XM_017007716.3",
"gene_hgnc_id": 26406,
"gene_symbol": "SCLT1",
"hgvs_c": "c.290+2T>C",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016863205.1",
"strand": false,
"transcript": "XM_017007716.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 2055,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017007717.3",
"gene_hgnc_id": 26406,
"gene_symbol": "SCLT1",
"hgvs_c": "c.290+2T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016863206.1",
"strand": false,
"transcript": "XM_017007717.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 2043,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047449590.1",
"gene_hgnc_id": 26406,
"gene_symbol": "SCLT1",
"hgvs_c": "c.290+2T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047305546.1",
"strand": false,
"transcript": "XM_047449590.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 657,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2560,
"cdna_start": null,
"cds_end": null,
"cds_length": 1974,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017007718.3",
"gene_hgnc_id": 26406,
"gene_symbol": "SCLT1",
"hgvs_c": "c.290+2T>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016863207.1",
"strand": false,
"transcript": "XM_017007718.3",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 653,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2548,
"cdna_start": null,
"cds_end": null,
"cds_length": 1962,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
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