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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: 2-240500075-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=240500075&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 240500075,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001282771.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.2689C>T",
"hgvs_p": "p.Arg897Cys",
"transcript": "NM_001282771.3",
"protein_id": "NP_001269700.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2689,
"cds_end": null,
"cds_length": 3093,
"cdna_start": 2814,
"cdna_end": null,
"cdna_length": 3405,
"mane_select": "ENST00000401804.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282771.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.2689C>T",
"hgvs_p": "p.Arg897Cys",
"transcript": "ENST00000401804.6",
"protein_id": "ENSP00000385887.1",
"transcript_support_level": 1,
"aa_start": 897,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2689,
"cds_end": null,
"cds_length": 3093,
"cdna_start": 2814,
"cdna_end": null,
"cdna_length": 3405,
"mane_select": "NM_001282771.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401804.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.2422C>T",
"hgvs_p": "p.Arg808Cys",
"transcript": "ENST00000272972.7",
"protein_id": "ENSP00000272972.3",
"transcript_support_level": 1,
"aa_start": 808,
"aa_end": null,
"aa_length": 941,
"cds_start": 2422,
"cds_end": null,
"cds_length": 2826,
"cdna_start": 2637,
"cdna_end": null,
"cdna_length": 3228,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272972.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.2128C>T",
"hgvs_p": "p.Arg710Cys",
"transcript": "ENST00000403283.6",
"protein_id": "ENSP00000383968.1",
"transcript_support_level": 1,
"aa_start": 710,
"aa_end": null,
"aa_length": 843,
"cds_start": 2128,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 2242,
"cdna_end": null,
"cdna_length": 2828,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403283.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.1759C>T",
"hgvs_p": "p.Arg587Cys",
"transcript": "ENST00000373318.6",
"protein_id": "ENSP00000362415.2",
"transcript_support_level": 1,
"aa_start": 587,
"aa_end": null,
"aa_length": 720,
"cds_start": 1759,
"cds_end": null,
"cds_length": 2163,
"cdna_start": 1858,
"cdna_end": null,
"cdna_length": 2449,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373318.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.1750C>T",
"hgvs_p": "p.Arg584Cys",
"transcript": "ENST00000361678.8",
"protein_id": "ENSP00000355097.4",
"transcript_support_level": 1,
"aa_start": 584,
"aa_end": null,
"aa_length": 717,
"cds_start": 1750,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 1908,
"cdna_end": null,
"cdna_length": 2499,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361678.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.1705C>T",
"hgvs_p": "p.Arg569Cys",
"transcript": "ENST00000406958.5",
"protein_id": "ENSP00000384555.1",
"transcript_support_level": 1,
"aa_start": 569,
"aa_end": null,
"aa_length": 702,
"cds_start": 1705,
"cds_end": null,
"cds_length": 2109,
"cdna_start": 1805,
"cdna_end": null,
"cdna_length": 2396,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406958.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.2689C>T",
"hgvs_p": "p.Arg897Cys",
"transcript": "NM_001354023.3",
"protein_id": "NP_001340952.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2689,
"cds_end": null,
"cds_length": 3093,
"cdna_start": 3081,
"cdna_end": null,
"cdna_length": 3672,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354023.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.2689C>T",
"hgvs_p": "p.Arg897Cys",
"transcript": "ENST00000959624.1",
"protein_id": "ENSP00000629683.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 1030,
"cds_start": 2689,
"cds_end": null,
"cds_length": 3093,
"cdna_start": 3523,
"cdna_end": null,
"cdna_length": 4112,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959624.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.2605C>T",
"hgvs_p": "p.Arg869Cys",
"transcript": "NM_001393462.1",
"protein_id": "NP_001380391.1",
"transcript_support_level": null,
"aa_start": 869,
"aa_end": null,
"aa_length": 1002,
"cds_start": 2605,
"cds_end": null,
"cds_length": 3009,
"cdna_start": 2918,
"cdna_end": null,
"cdna_length": 3509,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393462.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.2440C>T",
"hgvs_p": "p.Arg814Cys",
"transcript": "ENST00000858022.1",
"protein_id": "ENSP00000528081.1",
"transcript_support_level": null,
"aa_start": 814,
"aa_end": null,
"aa_length": 947,
"cds_start": 2440,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 2540,
"cdna_end": null,
"cdna_length": 3131,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858022.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.2422C>T",
"hgvs_p": "p.Arg808Cys",
"transcript": "NM_016552.5",
"protein_id": "NP_057636.2",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 941,
"cds_start": 2422,
"cds_end": null,
"cds_length": 2826,
"cdna_start": 2651,
"cdna_end": null,
"cdna_length": 3242,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016552.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.2308C>T",
"hgvs_p": "p.Arg770Cys",
"transcript": "ENST00000858021.1",
"protein_id": "ENSP00000528080.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 903,
"cds_start": 2308,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 2440,
"cdna_end": null,
"cdna_length": 3029,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858021.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.2281C>T",
"hgvs_p": "p.Arg761Cys",
"transcript": "NM_001354024.3",
"protein_id": "NP_001340953.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 894,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 2461,
"cdna_end": null,
"cdna_length": 3052,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354024.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.2128C>T",
"hgvs_p": "p.Arg710Cys",
"transcript": "NM_001308375.4",
"protein_id": "NP_001295304.3",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 843,
"cds_start": 2128,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 2242,
"cdna_end": null,
"cdna_length": 2833,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308375.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.2281C>T",
"hgvs_p": "p.Arg761Cys",
"transcript": "NM_001393463.1",
"protein_id": "NP_001380392.1",
"transcript_support_level": null,
"aa_start": 761,
"aa_end": null,
"aa_length": 806,
"cds_start": 2281,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 2461,
"cdna_end": null,
"cdna_length": 2812,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393463.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.1999C>T",
"hgvs_p": "p.Arg667Cys",
"transcript": "ENST00000858016.1",
"protein_id": "ENSP00000528075.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 800,
"cds_start": 1999,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 2054,
"cdna_end": null,
"cdna_length": 2645,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858016.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.1999C>T",
"hgvs_p": "p.Arg667Cys",
"transcript": "ENST00000858017.1",
"protein_id": "ENSP00000528076.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 800,
"cds_start": 1999,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 2380,
"cdna_end": null,
"cdna_length": 2959,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858017.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.1999C>T",
"hgvs_p": "p.Arg667Cys",
"transcript": "ENST00000858018.1",
"protein_id": "ENSP00000528077.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 800,
"cds_start": 1999,
"cds_end": null,
"cds_length": 2403,
"cdna_start": 2134,
"cdna_end": null,
"cdna_length": 2725,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858018.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.1609C>T",
"hgvs_p": "p.Arg537Cys",
"transcript": "NM_001393464.1",
"protein_id": "NP_001380393.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 771,
"cds_start": 1609,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 1633,
"cdna_end": null,
"cdna_length": 2559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393464.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.1891C>T",
"hgvs_p": "p.Arg631Cys",
"transcript": "ENST00000858019.1",
"protein_id": "ENSP00000528078.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 764,
"cds_start": 1891,
"cds_end": null,
"cds_length": 2295,
"cdna_start": 2026,
"cdna_end": null,
"cdna_length": 2616,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858019.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANKMY1",
"gene_hgnc_id": 20987,
"hgvs_c": "c.1483C>T",
"hgvs_p": "p.Arg495Cys",
"transcript": "NM_001393465.1",
"protein_id": "NP_001380394.1",
"transcript_support_level": null,
"aa_start": 495,
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"bayesdelnoaf_score": -0.02,
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"acmg_by_gene": [
{
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"pathogenic_score": 1,
"criteria": [
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}