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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: 7-140778007-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=140778007&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 140778007,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001374258.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1621G>A",
"hgvs_p": "p.Glu541Lys",
"transcript": "NM_001374258.1",
"protein_id": "NP_001361187.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 807,
"cds_start": 1621,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1847,
"cdna_end": null,
"cdna_length": 9807,
"mane_select": null,
"mane_plus": "ENST00000644969.2",
"biotype": "protein_coding",
"feature": "NM_001374258.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1621G>A",
"hgvs_p": "p.Glu541Lys",
"transcript": "ENST00000644969.2",
"protein_id": "ENSP00000496776.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 807,
"cds_start": 1621,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1847,
"cdna_end": null,
"cdna_length": 9807,
"mane_select": null,
"mane_plus": "NM_001374258.1",
"biotype": "protein_coding",
"feature": "ENST00000644969.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Glu501Lys",
"transcript": "NM_004333.6",
"protein_id": "NP_004324.2",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 766,
"cds_start": 1501,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1727,
"cdna_end": null,
"cdna_length": 6459,
"mane_select": "ENST00000646891.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004333.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Glu501Lys",
"transcript": "ENST00000646891.2",
"protein_id": "ENSP00000493543.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 766,
"cds_start": 1501,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1727,
"cdna_end": null,
"cdna_length": 6459,
"mane_select": "NM_004333.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646891.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1621G>A",
"hgvs_p": "p.Glu541Lys",
"transcript": "ENST00000288602.11",
"protein_id": "ENSP00000288602.7",
"transcript_support_level": 1,
"aa_start": 541,
"aa_end": null,
"aa_length": 806,
"cds_start": 1621,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1650,
"cdna_end": null,
"cdna_length": 2561,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000288602.11"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1630G>A",
"hgvs_p": "p.Glu544Lys",
"transcript": "ENST00000944245.1",
"protein_id": "ENSP00000614304.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 809,
"cds_start": 1630,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 1640,
"cdna_end": null,
"cdna_length": 2552,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944245.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1621G>A",
"hgvs_p": "p.Glu541Lys",
"transcript": "NM_001374244.1",
"protein_id": "NP_001361173.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 806,
"cds_start": 1621,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1847,
"cdna_end": null,
"cdna_length": 6579,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374244.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1510G>A",
"hgvs_p": "p.Glu504Lys",
"transcript": "NM_001378467.1",
"protein_id": "NP_001365396.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 770,
"cds_start": 1510,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1736,
"cdna_end": null,
"cdna_length": 9696,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378467.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1510G>A",
"hgvs_p": "p.Glu504Lys",
"transcript": "ENST00000912600.1",
"protein_id": "ENSP00000582659.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 769,
"cds_start": 1510,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1783,
"cdna_end": null,
"cdna_length": 3168,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912600.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Glu501Lys",
"transcript": "NM_001354609.2",
"protein_id": "NP_001341538.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 767,
"cds_start": 1501,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 1727,
"cdna_end": null,
"cdna_length": 9687,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354609.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Glu501Lys",
"transcript": "ENST00000496384.7",
"protein_id": "ENSP00000419060.2",
"transcript_support_level": 5,
"aa_start": 501,
"aa_end": null,
"aa_length": 767,
"cds_start": 1501,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 1608,
"cdna_end": null,
"cdna_length": 9578,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000496384.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Glu501Lys",
"transcript": "NM_001378468.1",
"protein_id": "NP_001365397.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 758,
"cds_start": 1501,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1727,
"cdna_end": null,
"cdna_length": 9533,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378468.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1435G>A",
"hgvs_p": "p.Glu479Lys",
"transcript": "NM_001378469.1",
"protein_id": "NP_001365398.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 744,
"cds_start": 1435,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1661,
"cdna_end": null,
"cdna_length": 6393,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378469.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1435G>A",
"hgvs_p": "p.Glu479Lys",
"transcript": "ENST00000912601.1",
"protein_id": "ENSP00000582660.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 744,
"cds_start": 1435,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1476,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912601.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1399G>A",
"hgvs_p": "p.Glu467Lys",
"transcript": "NM_001378470.1",
"protein_id": "NP_001365399.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 733,
"cds_start": 1399,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 1625,
"cdna_end": null,
"cdna_length": 9585,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378470.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1399G>A",
"hgvs_p": "p.Glu467Lys",
"transcript": "ENST00000867091.1",
"protein_id": "ENSP00000537150.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 732,
"cds_start": 1399,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 1643,
"cdna_end": null,
"cdna_length": 2550,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867091.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1390G>A",
"hgvs_p": "p.Glu464Lys",
"transcript": "NM_001378471.1",
"protein_id": "NP_001365400.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 730,
"cds_start": 1390,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 1616,
"cdna_end": null,
"cdna_length": 9576,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378471.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1345G>A",
"hgvs_p": "p.Glu449Lys",
"transcript": "NM_001378472.1",
"protein_id": "NP_001365401.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 715,
"cds_start": 1345,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 1446,
"cdna_end": null,
"cdna_length": 9406,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378472.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1345G>A",
"hgvs_p": "p.Glu449Lys",
"transcript": "NM_001378473.1",
"protein_id": "NP_001365402.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 714,
"cds_start": 1345,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1446,
"cdna_end": null,
"cdna_length": 6178,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378473.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1501G>A",
"hgvs_p": "p.Glu501Lys",
"transcript": "NM_001378474.1",
"protein_id": "NP_001365403.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 711,
"cds_start": 1501,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1727,
"cdna_end": null,
"cdna_length": 5062,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378474.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1237G>A",
"hgvs_p": "p.Glu413Lys",
"transcript": "NM_001378475.1",
"protein_id": "NP_001365404.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 679,
"cds_start": 1237,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 9423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378475.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1621G>A",
"hgvs_p": "p.Glu541Lys",
"transcript": "XM_017012559.2",
"protein_id": "XP_016868048.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 798,
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
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}
],
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}