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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: 3-57896582-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=57896582&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 57896582,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000671191.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1432G>T",
"hgvs_p": "p.Asp478Tyr",
"transcript": "NM_001377540.1",
"protein_id": "NP_001364469.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 842,
"cds_start": 1432,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 2570,
"cdna_end": null,
"cdna_length": 6381,
"mane_select": "ENST00000671191.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1432G>T",
"hgvs_p": "p.Asp478Tyr",
"transcript": "ENST00000671191.1",
"protein_id": "ENSP00000499458.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 842,
"cds_start": 1432,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 2570,
"cdna_end": null,
"cdna_length": 6381,
"mane_select": "NM_001377540.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1318G>T",
"hgvs_p": "p.Asp440Tyr",
"transcript": "ENST00000417128.7",
"protein_id": "ENSP00000412829.3",
"transcript_support_level": 1,
"aa_start": 440,
"aa_end": null,
"aa_length": 804,
"cds_start": 1318,
"cds_end": null,
"cds_length": 2415,
"cdna_start": 2521,
"cdna_end": null,
"cdna_length": 5455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1267G>T",
"hgvs_p": "p.Asp423Tyr",
"transcript": "ENST00000449503.6",
"protein_id": "ENSP00000412945.2",
"transcript_support_level": 1,
"aa_start": 423,
"aa_end": null,
"aa_length": 790,
"cds_start": 1267,
"cds_end": null,
"cds_length": 2373,
"cdna_start": 1361,
"cdna_end": null,
"cdna_length": 4027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1381G>T",
"hgvs_p": "p.Asp461Tyr",
"transcript": "ENST00000438794.6",
"protein_id": "ENSP00000391886.2",
"transcript_support_level": 1,
"aa_start": 461,
"aa_end": null,
"aa_length": 778,
"cds_start": 1381,
"cds_end": null,
"cds_length": 2337,
"cdna_start": 2546,
"cdna_end": null,
"cdna_length": 4801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1267G>T",
"hgvs_p": "p.Asp423Tyr",
"transcript": "ENST00000428312.6",
"protein_id": "ENSP00000398661.2",
"transcript_support_level": 1,
"aa_start": 423,
"aa_end": null,
"aa_length": 746,
"cds_start": 1267,
"cds_end": null,
"cds_length": 2241,
"cdna_start": 1906,
"cdna_end": null,
"cdna_length": 4685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.202G>T",
"hgvs_p": "p.Asp68Tyr",
"transcript": "ENST00000416658.5",
"protein_id": "ENSP00000389978.1",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 432,
"cds_start": 202,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 203,
"cdna_end": null,
"cdna_length": 1570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1432G>T",
"hgvs_p": "p.Asp478Tyr",
"transcript": "NM_001377538.1",
"protein_id": "NP_001364467.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 852,
"cds_start": 1432,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 2570,
"cdna_end": null,
"cdna_length": 6312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1432G>T",
"hgvs_p": "p.Asp478Tyr",
"transcript": "ENST00000705628.1",
"protein_id": "ENSP00000516144.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 852,
"cds_start": 1432,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 2635,
"cdna_end": null,
"cdna_length": 5622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1432G>T",
"hgvs_p": "p.Asp478Tyr",
"transcript": "NM_001377539.1",
"protein_id": "NP_001364468.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 845,
"cds_start": 1432,
"cds_end": null,
"cds_length": 2538,
"cdna_start": 2570,
"cdna_end": null,
"cdna_length": 6291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1381G>T",
"hgvs_p": "p.Asp461Tyr",
"transcript": "NM_001304420.3",
"protein_id": "NP_001291349.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 828,
"cds_start": 1381,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 2519,
"cdna_end": null,
"cdna_length": 6240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1381G>T",
"hgvs_p": "p.Asp461Tyr",
"transcript": "ENST00000659705.1",
"protein_id": "ENSP00000499241.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 828,
"cds_start": 1381,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 2519,
"cdna_end": null,
"cdna_length": 6240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1381G>T",
"hgvs_p": "p.Asp461Tyr",
"transcript": "NM_001377541.1",
"protein_id": "NP_001364470.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 825,
"cds_start": 1381,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2519,
"cdna_end": null,
"cdna_length": 6330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1381G>T",
"hgvs_p": "p.Asp461Tyr",
"transcript": "NM_001377542.1",
"protein_id": "NP_001364471.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 825,
"cds_start": 1381,
"cds_end": null,
"cds_length": 2478,
"cdna_start": 2519,
"cdna_end": null,
"cdna_length": 6330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1369G>T",
"hgvs_p": "p.Asp457Tyr",
"transcript": "NM_001377545.1",
"protein_id": "NP_001364474.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 821,
"cds_start": 1369,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2507,
"cdna_end": null,
"cdna_length": 6318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1432G>T",
"hgvs_p": "p.Asp478Tyr",
"transcript": "ENST00000705652.1",
"protein_id": "ENSP00000516151.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 820,
"cds_start": 1432,
"cds_end": null,
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"cdna_start": 2597,
"cdna_end": null,
"cdna_length": 5500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1330G>T",
"hgvs_p": "p.Asp444Tyr",
"transcript": "NM_007159.5",
"protein_id": "NP_009090.2",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 811,
"cds_start": 1330,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 2468,
"cdna_end": null,
"cdna_length": 6189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1330G>T",
"hgvs_p": "p.Asp444Tyr",
"transcript": "ENST00000295951.7",
"protein_id": "ENSP00000295951.3",
"transcript_support_level": 5,
"aa_start": 444,
"aa_end": null,
"aa_length": 811,
"cds_start": 1330,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 2547,
"cdna_end": null,
"cdna_length": 5433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1330G>T",
"hgvs_p": "p.Asp444Tyr",
"transcript": "ENST00000295952.7",
"protein_id": "ENSP00000295952.3",
"transcript_support_level": 2,
"aa_start": 444,
"aa_end": null,
"aa_length": 811,
"cds_start": 1330,
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"cdna_start": 1535,
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"cdna_length": 4420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1330G>T",
"hgvs_p": "p.Asp444Tyr",
"transcript": "NM_001377549.1",
"protein_id": "NP_001364478.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 808,
"cds_start": 1330,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 2468,
"cdna_end": null,
"cdna_length": 6279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1318G>T",
"hgvs_p": "p.Asp440Tyr",
"transcript": "NM_001377551.1",
"protein_id": "NP_001364480.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 807,
"cds_start": 1318,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 2456,
"cdna_end": null,
"cdna_length": 6177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.1318G>T",
"hgvs_p": "p.Asp440Tyr",
"transcript": "ENST00000670768.2",
"protein_id": "ENSP00000499553.2",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 807,
"cds_start": 1318,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 2521,
"cdna_end": null,
"cdna_length": 6195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 2685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"hgvs_c": "c.*120G>T",
"hgvs_p": null,
"transcript": "XM_047448896.1",
"protein_id": "XP_047304852.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 459,
"cds_start": -4,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLMAP",
"gene_hgnc_id": 16643,
"dbsnp": "rs1016820088",
"frequency_reference_population": 0.0000049758796,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000480872,
"gnomad_genomes_af": 0.00000657609,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5960614681243896,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.373,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6423,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.21,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.213,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000671191.1",
"gene_symbol": "SLMAP",
"hgnc_id": 16643,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.1432G>T",
"hgvs_p": "p.Asp478Tyr"
}
],
"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
}