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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: 10-69384348-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=69384348&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 69384348,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001322365.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.1598T>C",
"hgvs_p": "p.Leu533Ser",
"transcript": "NM_001358263.1",
"protein_id": "NP_001345192.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 921,
"cds_start": 1598,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000643399.2",
"biotype": "protein_coding",
"feature": "NM_001358263.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.1598T>C",
"hgvs_p": "p.Leu533Ser",
"transcript": "ENST00000643399.2",
"protein_id": "ENSP00000494664.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 921,
"cds_start": 1598,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_001358263.1",
"biotype": "protein_coding",
"feature": "ENST00000643399.2"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.1586T>C",
"hgvs_p": "p.Leu529Ser",
"transcript": "NM_000188.3",
"protein_id": "NP_000179.2",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 917,
"cds_start": 1586,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359426.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000188.3"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.1586T>C",
"hgvs_p": "p.Leu529Ser",
"transcript": "ENST00000359426.7",
"protein_id": "ENSP00000352398.6",
"transcript_support_level": 1,
"aa_start": 529,
"aa_end": null,
"aa_length": 917,
"cds_start": 1586,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000188.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359426.7"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.1586T>C",
"hgvs_p": "p.Leu529Ser",
"transcript": "ENST00000934397.1",
"protein_id": "ENSP00000604456.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 954,
"cds_start": 1586,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934397.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"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": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.1691T>C",
"hgvs_p": "p.Leu564Ser",
"transcript": "NM_001322365.2",
"protein_id": "NP_001309294.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 952,
"cds_start": 1691,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322365.2"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.1634T>C",
"hgvs_p": "p.Leu545Ser",
"transcript": "ENST00000970248.1",
"protein_id": "ENSP00000640307.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 933,
"cds_start": 1634,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970248.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.1598T>C",
"hgvs_p": "p.Leu533Ser",
"transcript": "NM_001322364.2",
"protein_id": "NP_001309293.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 921,
"cds_start": 1598,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322364.2"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.1598T>C",
"hgvs_p": "p.Leu533Ser",
"transcript": "NM_033497.3",
"protein_id": "NP_277032.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 921,
"cds_start": 1598,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033497.3"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.1598T>C",
"hgvs_p": "p.Leu533Ser",
"transcript": "NM_033498.3",
"protein_id": "NP_277033.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 921,
"cds_start": 1598,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033498.3"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.1598T>C",
"hgvs_p": "p.Leu533Ser",
"transcript": "ENST00000436817.6",
"protein_id": "ENSP00000415949.2",
"transcript_support_level": 5,
"aa_start": 533,
"aa_end": null,
"aa_length": 921,
"cds_start": 1598,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436817.6"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.1586T>C",
"hgvs_p": "p.Leu529Ser",
"transcript": "NM_001441139.1",
"protein_id": "NP_001428068.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 916,
"cds_start": 1586,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441139.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.1583T>C",
"hgvs_p": "p.Leu528Ser",
"transcript": "NM_033496.3",
"protein_id": "NP_277031.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 916,
"cds_start": 1583,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033496.3"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.1583T>C",
"hgvs_p": "p.Leu528Ser",
"transcript": "ENST00000298649.8",
"protein_id": "ENSP00000298649.3",
"transcript_support_level": 5,
"aa_start": 528,
"aa_end": null,
"aa_length": 916,
"cds_start": 1583,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000298649.8"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.1577T>C",
"hgvs_p": "p.Leu526Ser",
"transcript": "NM_001441140.1",
"protein_id": "NP_001428069.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 914,
"cds_start": 1577,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441140.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.1586T>C",
"hgvs_p": "p.Leu529Ser",
"transcript": "NM_001441141.1",
"protein_id": "NP_001428070.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 914,
"cds_start": 1586,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441141.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.1586T>C",
"hgvs_p": "p.Leu529Ser",
"transcript": "ENST00000904596.1",
"protein_id": "ENSP00000574655.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 914,
"cds_start": 1586,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904596.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.1550T>C",
"hgvs_p": "p.Leu517Ser",
"transcript": "NM_033500.2",
"protein_id": "NP_277035.2",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 905,
"cds_start": 1550,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033500.2"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.1544T>C",
"hgvs_p": "p.Leu515Ser",
"transcript": "NM_001441142.1",
"protein_id": "NP_001428071.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 903,
"cds_start": 1544,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441142.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.1526T>C",
"hgvs_p": "p.Leu509Ser",
"transcript": "ENST00000934395.1",
"protein_id": "ENSP00000604454.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 897,
"cds_start": 1526,
"cds_end": null,
"cds_length": 2694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934395.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.1502T>C",
"hgvs_p": "p.Leu501Ser",
"transcript": "NM_001322366.1",
"protein_id": "NP_001309295.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 889,
"cds_start": 1502,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322366.1"
},
{
"aa_ref": "L",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HK1",
"gene_hgnc_id": 4922,
"hgvs_c": "c.1502T>C",
"hgvs_p": "p.Leu501Ser",
"transcript": "NM_001441143.1",
"protein_id": "NP_001428072.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 889,
"cds_start": 1502,
"cds_end": null,
"cds_length": 2670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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}
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}