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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: 6-138424749-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=138424749&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 138424749,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020464.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4153C>T",
"hgvs_p": "p.Pro1385Ser",
"transcript": "NM_001144060.2",
"protein_id": "NP_001137532.1",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1606,
"cds_start": 4153,
"cds_end": null,
"cds_length": 4821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000343505.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144060.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4153C>T",
"hgvs_p": "p.Pro1385Ser",
"transcript": "ENST00000343505.10",
"protein_id": "ENSP00000344672.5",
"transcript_support_level": 5,
"aa_start": 1385,
"aa_end": null,
"aa_length": 1606,
"cds_start": 4153,
"cds_end": null,
"cds_length": 4821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001144060.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343505.10"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4384C>T",
"hgvs_p": "p.Pro1462Ser",
"transcript": "ENST00000491526.7",
"protein_id": "ENSP00000433523.2",
"transcript_support_level": 3,
"aa_start": 1462,
"aa_end": null,
"aa_length": 1683,
"cds_start": 4384,
"cds_end": null,
"cds_length": 5052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000491526.7"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4165C>T",
"hgvs_p": "p.Pro1389Ser",
"transcript": "NM_020464.2",
"protein_id": "NP_065197.1",
"transcript_support_level": null,
"aa_start": 1389,
"aa_end": null,
"aa_length": 1610,
"cds_start": 4165,
"cds_end": null,
"cds_length": 4833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020464.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4165C>T",
"hgvs_p": "p.Pro1389Ser",
"transcript": "ENST00000427025.6",
"protein_id": "ENSP00000394546.2",
"transcript_support_level": 5,
"aa_start": 1389,
"aa_end": null,
"aa_length": 1610,
"cds_start": 4165,
"cds_end": null,
"cds_length": 4833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427025.6"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4438C>T",
"hgvs_p": "p.Pro1480Ser",
"transcript": "XM_011535976.2",
"protein_id": "XP_011534278.2",
"transcript_support_level": null,
"aa_start": 1480,
"aa_end": null,
"aa_length": 1701,
"cds_start": 4438,
"cds_end": null,
"cds_length": 5106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535976.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4384C>T",
"hgvs_p": "p.Pro1462Ser",
"transcript": "XM_047419109.1",
"protein_id": "XP_047275065.1",
"transcript_support_level": null,
"aa_start": 1462,
"aa_end": null,
"aa_length": 1683,
"cds_start": 4384,
"cds_end": null,
"cds_length": 5052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419109.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4351C>T",
"hgvs_p": "p.Pro1451Ser",
"transcript": "XM_011535966.4",
"protein_id": "XP_011534268.1",
"transcript_support_level": null,
"aa_start": 1451,
"aa_end": null,
"aa_length": 1672,
"cds_start": 4351,
"cds_end": null,
"cds_length": 5019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535966.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4351C>T",
"hgvs_p": "p.Pro1451Ser",
"transcript": "XM_011535967.4",
"protein_id": "XP_011534269.1",
"transcript_support_level": null,
"aa_start": 1451,
"aa_end": null,
"aa_length": 1672,
"cds_start": 4351,
"cds_end": null,
"cds_length": 5019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535967.4"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4351C>T",
"hgvs_p": "p.Pro1451Ser",
"transcript": "XM_017011086.3",
"protein_id": "XP_016866575.1",
"transcript_support_level": null,
"aa_start": 1451,
"aa_end": null,
"aa_length": 1672,
"cds_start": 4351,
"cds_end": null,
"cds_length": 5019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011086.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4306C>T",
"hgvs_p": "p.Pro1436Ser",
"transcript": "XM_047419110.1",
"protein_id": "XP_047275066.1",
"transcript_support_level": null,
"aa_start": 1436,
"aa_end": null,
"aa_length": 1657,
"cds_start": 4306,
"cds_end": null,
"cds_length": 4974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419110.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4297C>T",
"hgvs_p": "p.Pro1433Ser",
"transcript": "XM_047419111.1",
"protein_id": "XP_047275067.1",
"transcript_support_level": null,
"aa_start": 1433,
"aa_end": null,
"aa_length": 1654,
"cds_start": 4297,
"cds_end": null,
"cds_length": 4965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419111.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4297C>T",
"hgvs_p": "p.Pro1433Ser",
"transcript": "XM_047419112.1",
"protein_id": "XP_047275068.1",
"transcript_support_level": null,
"aa_start": 1433,
"aa_end": null,
"aa_length": 1654,
"cds_start": 4297,
"cds_end": null,
"cds_length": 4965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419112.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4252C>T",
"hgvs_p": "p.Pro1418Ser",
"transcript": "XM_047419113.1",
"protein_id": "XP_047275069.1",
"transcript_support_level": null,
"aa_start": 1418,
"aa_end": null,
"aa_length": 1639,
"cds_start": 4252,
"cds_end": null,
"cds_length": 4920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419113.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4246C>T",
"hgvs_p": "p.Pro1416Ser",
"transcript": "XM_017011087.1",
"protein_id": "XP_016866576.1",
"transcript_support_level": null,
"aa_start": 1416,
"aa_end": null,
"aa_length": 1637,
"cds_start": 4246,
"cds_end": null,
"cds_length": 4914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011087.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4210C>T",
"hgvs_p": "p.Pro1404Ser",
"transcript": "XM_011535969.3",
"protein_id": "XP_011534271.1",
"transcript_support_level": null,
"aa_start": 1404,
"aa_end": null,
"aa_length": 1625,
"cds_start": 4210,
"cds_end": null,
"cds_length": 4878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535969.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4207C>T",
"hgvs_p": "p.Pro1403Ser",
"transcript": "XM_011535970.3",
"protein_id": "XP_011534272.1",
"transcript_support_level": null,
"aa_start": 1403,
"aa_end": null,
"aa_length": 1624,
"cds_start": 4207,
"cds_end": null,
"cds_length": 4875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535970.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4201C>T",
"hgvs_p": "p.Pro1401Ser",
"transcript": "XM_017011088.2",
"protein_id": "XP_016866577.1",
"transcript_support_level": null,
"aa_start": 1401,
"aa_end": null,
"aa_length": 1622,
"cds_start": 4201,
"cds_end": null,
"cds_length": 4869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011088.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4192C>T",
"hgvs_p": "p.Pro1398Ser",
"transcript": "XM_047419114.1",
"protein_id": "XP_047275070.1",
"transcript_support_level": null,
"aa_start": 1398,
"aa_end": null,
"aa_length": 1619,
"cds_start": 4192,
"cds_end": null,
"cds_length": 4860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419114.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4189C>T",
"hgvs_p": "p.Pro1397Ser",
"transcript": "XM_011535971.3",
"protein_id": "XP_011534273.1",
"transcript_support_level": null,
"aa_start": 1397,
"aa_end": null,
"aa_length": 1618,
"cds_start": 4189,
"cds_end": null,
"cds_length": 4857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535971.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4165C>T",
"hgvs_p": "p.Pro1389Ser",
"transcript": "XM_011535972.3",
"protein_id": "XP_011534274.1",
"transcript_support_level": null,
"aa_start": 1389,
"aa_end": null,
"aa_length": 1610,
"cds_start": 4165,
"cds_end": null,
"cds_length": 4833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535972.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NHSL1",
"gene_hgnc_id": 21021,
"hgvs_c": "c.4165C>T",
"hgvs_p": "p.Pro1389Ser",
"transcript": "XM_047419115.1",
"protein_id": "XP_047275071.1",
"transcript_support_level": null,
"aa_start": 1389,
"aa_end": null,
"aa_length": 1610,
"cds_start": 4165,
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}