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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: 3-57922980-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=57922980&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 57922980,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000671191.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2402A>G",
"hgvs_p": "p.Gln801Arg",
"transcript": "NM_001377540.1",
"protein_id": "NP_001364469.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 842,
"cds_start": 2402,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 3540,
"cdna_end": null,
"cdna_length": 6381,
"mane_select": "ENST00000671191.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2402A>G",
"hgvs_p": "p.Gln801Arg",
"transcript": "ENST00000671191.1",
"protein_id": "ENSP00000499458.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 842,
"cds_start": 2402,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 3540,
"cdna_end": null,
"cdna_length": 6381,
"mane_select": "NM_001377540.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2288A>G",
"hgvs_p": "p.Gln763Arg",
"transcript": "ENST00000417128.7",
"protein_id": "ENSP00000412829.3",
"transcript_support_level": 1,
"aa_start": 763,
"aa_end": null,
"aa_length": 804,
"cds_start": 2288,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 3491,
"cdna_end": null,
"cdna_length": 5455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2237A>G",
"hgvs_p": "p.Gln746Arg",
"transcript": "ENST00000449503.6",
"protein_id": "ENSP00000412945.2",
"transcript_support_level": 1,
"aa_start": 746,
"aa_end": null,
"aa_length": 790,
"cds_start": 2237,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 2331,
"cdna_end": null,
"cdna_length": 4027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2114A>G",
"hgvs_p": "p.Gln705Arg",
"transcript": "ENST00000428312.6",
"protein_id": "ENSP00000398661.2",
"transcript_support_level": 1,
"aa_start": 705,
"aa_end": null,
"aa_length": 746,
"cds_start": 2114,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 2753,
"cdna_end": null,
"cdna_length": 4685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1172A>G",
"hgvs_p": "p.Gln391Arg",
"transcript": "ENST00000416658.5",
"protein_id": "ENSP00000389978.1",
"transcript_support_level": 1,
"aa_start": 391,
"aa_end": null,
"aa_length": 432,
"cds_start": 1172,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1173,
"cdna_end": null,
"cdna_length": 1570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2423A>G",
"hgvs_p": "p.Gln808Arg",
"transcript": "NM_001377538.1",
"protein_id": "NP_001364467.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 852,
"cds_start": 2423,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 3561,
"cdna_end": null,
"cdna_length": 6312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2423A>G",
"hgvs_p": "p.Gln808Arg",
"transcript": "ENST00000705628.1",
"protein_id": "ENSP00000516144.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 852,
"cds_start": 2423,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 3626,
"cdna_end": null,
"cdna_length": 5622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2402A>G",
"hgvs_p": "p.Gln801Arg",
"transcript": "NM_001377539.1",
"protein_id": "NP_001364468.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 845,
"cds_start": 2402,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 3540,
"cdna_end": null,
"cdna_length": 6291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2351A>G",
"hgvs_p": "p.Gln784Arg",
"transcript": "NM_001304420.3",
"protein_id": "NP_001291349.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 828,
"cds_start": 2351,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 3489,
"cdna_end": null,
"cdna_length": 6240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2351A>G",
"hgvs_p": "p.Gln784Arg",
"transcript": "ENST00000659705.1",
"protein_id": "ENSP00000499241.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 828,
"cds_start": 2351,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 3489,
"cdna_end": null,
"cdna_length": 6240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2351A>G",
"hgvs_p": "p.Gln784Arg",
"transcript": "NM_001377541.1",
"protein_id": "NP_001364470.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 825,
"cds_start": 2351,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 3489,
"cdna_end": null,
"cdna_length": 6330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2351A>G",
"hgvs_p": "p.Gln784Arg",
"transcript": "NM_001377542.1",
"protein_id": "NP_001364471.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 825,
"cds_start": 2351,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 3489,
"cdna_end": null,
"cdna_length": 6330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2339A>G",
"hgvs_p": "p.Gln780Arg",
"transcript": "NM_001377545.1",
"protein_id": "NP_001364474.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 821,
"cds_start": 2339,
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"cds_length": 2466,
"cdna_start": 3477,
"cdna_end": null,
"cdna_length": 6318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2327A>G",
"hgvs_p": "p.Gln776Arg",
"transcript": "ENST00000705652.1",
"protein_id": "ENSP00000516151.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 820,
"cds_start": 2327,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 3492,
"cdna_end": null,
"cdna_length": 5500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2300A>G",
"hgvs_p": "p.Gln767Arg",
"transcript": "NM_007159.5",
"protein_id": "NP_009090.2",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 811,
"cds_start": 2300,
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"cdna_start": 3438,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2300A>G",
"hgvs_p": "p.Gln767Arg",
"transcript": "ENST00000295951.7",
"protein_id": "ENSP00000295951.3",
"transcript_support_level": 5,
"aa_start": 767,
"aa_end": null,
"aa_length": 811,
"cds_start": 2300,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 3517,
"cdna_end": null,
"cdna_length": 5433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2300A>G",
"hgvs_p": "p.Gln767Arg",
"transcript": "ENST00000295952.7",
"protein_id": "ENSP00000295952.3",
"transcript_support_level": 2,
"aa_start": 767,
"aa_end": null,
"aa_length": 811,
"cds_start": 2300,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 2505,
"cdna_end": null,
"cdna_length": 4420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2300A>G",
"hgvs_p": "p.Gln767Arg",
"transcript": "NM_001377549.1",
"protein_id": "NP_001364478.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 808,
"cds_start": 2300,
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"cdna_start": 3438,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2288A>G",
"hgvs_p": "p.Gln763Arg",
"transcript": "NM_001377551.1",
"protein_id": "NP_001364480.1",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 807,
"cds_start": 2288,
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"cdna_start": 3426,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2288A>G",
"hgvs_p": "p.Gln763Arg",
"transcript": "ENST00000670768.2",
"protein_id": "ENSP00000499553.2",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 807,
"cds_start": 2288,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 3491,
"cdna_end": null,
"cdna_length": 6195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.2288A>G",
"hgvs_p": "p.Gln763Arg",
"transcript": "NM_001377552.1",
"protein_id": "NP_001364481.1",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 804,
"cds_start": 2288,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 3426,
"cdna_end": null,
"cdna_length": 6267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
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"bayesdelnoaf_score": -0.31,
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{
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Brugada syndrome|not provided|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}