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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: 20-3668985-ATCTGGACT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=3668985&ref=ATCTGGACT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 3668985,
"ref": "ATCTGGACT",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "NM_025220.5",
"consequences": [
{
"aa_ref": "QVQM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2412_2419delAGTCCAGA",
"hgvs_p": "p.Gln804fs",
"transcript": "NM_025220.5",
"protein_id": "NP_079496.1",
"transcript_support_level": null,
"aa_start": 804,
"aa_end": null,
"aa_length": 813,
"cds_start": 2412,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356518.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025220.5"
},
{
"aa_ref": "QVQM",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2412_2419delAGTCCAGA",
"hgvs_p": "p.Gln804fs",
"transcript": "ENST00000356518.7",
"protein_id": "ENSP00000348912.3",
"transcript_support_level": 1,
"aa_start": 804,
"aa_end": null,
"aa_length": 813,
"cds_start": 2412,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025220.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356518.7"
},
{
"aa_ref": "QVQM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2409_2416delAGTCCAGA",
"hgvs_p": "p.Gln803fs",
"transcript": "ENST00000379861.8",
"protein_id": "ENSP00000369190.4",
"transcript_support_level": 1,
"aa_start": 803,
"aa_end": null,
"aa_length": 812,
"cds_start": 2409,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379861.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "n.1973_1980delAGTCCAGA",
"hgvs_p": null,
"transcript": "ENST00000466620.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000466620.5"
},
{
"aa_ref": "QVQM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2451_2458delAGTCCAGA",
"hgvs_p": "p.Gln817fs",
"transcript": "ENST00000882045.1",
"protein_id": "ENSP00000552104.1",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 826,
"cds_start": 2451,
"cds_end": null,
"cds_length": 2481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882045.1"
},
{
"aa_ref": "QVQM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2448_2455delAGTCCAGA",
"hgvs_p": "p.Gln816fs",
"transcript": "ENST00000882046.1",
"protein_id": "ENSP00000552105.1",
"transcript_support_level": null,
"aa_start": 816,
"aa_end": null,
"aa_length": 825,
"cds_start": 2448,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882046.1"
},
{
"aa_ref": "QVQM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2445_2452delAGTCCAGA",
"hgvs_p": "p.Gln815fs",
"transcript": "ENST00000959298.1",
"protein_id": "ENSP00000629357.1",
"transcript_support_level": null,
"aa_start": 815,
"aa_end": null,
"aa_length": 824,
"cds_start": 2445,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959298.1"
},
{
"aa_ref": "QVQM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2439_2446delAGTCCAGA",
"hgvs_p": "p.Gln813fs",
"transcript": "ENST00000882052.1",
"protein_id": "ENSP00000552111.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 822,
"cds_start": 2439,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882052.1"
},
{
"aa_ref": "QVQM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2427_2434delAGTCCAGA",
"hgvs_p": "p.Gln809fs",
"transcript": "ENST00000959295.1",
"protein_id": "ENSP00000629354.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 818,
"cds_start": 2427,
"cds_end": null,
"cds_length": 2457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959295.1"
},
{
"aa_ref": "QVQM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2409_2416delAGTCCAGA",
"hgvs_p": "p.Gln803fs",
"transcript": "NM_001282447.3",
"protein_id": "NP_001269376.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 812,
"cds_start": 2409,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282447.3"
},
{
"aa_ref": "QVQM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2409_2416delAGTCCAGA",
"hgvs_p": "p.Gln803fs",
"transcript": "ENST00000882047.1",
"protein_id": "ENSP00000552106.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 812,
"cds_start": 2409,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882047.1"
},
{
"aa_ref": "QVQM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2406_2413delAGTCCAGA",
"hgvs_p": "p.Gln802fs",
"transcript": "ENST00000959300.1",
"protein_id": "ENSP00000629359.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 811,
"cds_start": 2406,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959300.1"
},
{
"aa_ref": "QVQM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2400_2407delAGTCCAGA",
"hgvs_p": "p.Gln800fs",
"transcript": "ENST00000959302.1",
"protein_id": "ENSP00000629361.1",
"transcript_support_level": null,
"aa_start": 800,
"aa_end": null,
"aa_length": 809,
"cds_start": 2400,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959302.1"
},
{
"aa_ref": "QVQM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2391_2398delAGTCCAGA",
"hgvs_p": "p.Gln797fs",
"transcript": "ENST00000882053.1",
"protein_id": "ENSP00000552112.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 806,
"cds_start": 2391,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882053.1"
},
{
"aa_ref": "QVQM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2391_2398delAGTCCAGA",
"hgvs_p": "p.Gln797fs",
"transcript": "ENST00000959297.1",
"protein_id": "ENSP00000629356.1",
"transcript_support_level": null,
"aa_start": 797,
"aa_end": null,
"aa_length": 806,
"cds_start": 2391,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959297.1"
},
{
"aa_ref": "QVQM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2388_2395delAGTCCAGA",
"hgvs_p": "p.Gln796fs",
"transcript": "ENST00000959299.1",
"protein_id": "ENSP00000629358.1",
"transcript_support_level": null,
"aa_start": 796,
"aa_end": null,
"aa_length": 805,
"cds_start": 2388,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959299.1"
},
{
"aa_ref": "QVQM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2373_2380delAGTCCAGA",
"hgvs_p": "p.Gln791fs",
"transcript": "ENST00000882051.1",
"protein_id": "ENSP00000552110.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 800,
"cds_start": 2373,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882051.1"
},
{
"aa_ref": "QVQM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2334_2341delAGTCCAGA",
"hgvs_p": "p.Gln778fs",
"transcript": "NM_153202.4",
"protein_id": "NP_694882.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 787,
"cds_start": 2334,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153202.4"
},
{
"aa_ref": "QVQM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2334_2341delAGTCCAGA",
"hgvs_p": "p.Gln778fs",
"transcript": "ENST00000350009.6",
"protein_id": "ENSP00000322550.5",
"transcript_support_level": 5,
"aa_start": 778,
"aa_end": null,
"aa_length": 787,
"cds_start": 2334,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350009.6"
},
{
"aa_ref": "QVQM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2331_2338delAGTCCAGA",
"hgvs_p": "p.Gln777fs",
"transcript": "ENST00000882048.1",
"protein_id": "ENSP00000552107.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 786,
"cds_start": 2331,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882048.1"
},
{
"aa_ref": "QVQM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAM33",
"gene_hgnc_id": 15478,
"hgvs_c": "c.2208_2215delAGTCCAGA",
"hgvs_p": "p.Gln736fs",
"transcript": "ENST00000882050.1",
"protein_id": "ENSP00000552109.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 745,
"cds_start": 2208,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882050.1"
},
{
"aa_ref": "QVQM",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
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"acmg_by_gene": [
{
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"criteria": [
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"BA1"
],
"verdict": "Benign",
"transcript": "NM_025220.5",
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"effects": [
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],
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],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}