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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: 1-85019152-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=85019152&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 85019152,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_018298.11",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCOLN3",
"gene_hgnc_id": 13358,
"hgvs_c": "c.1633G>T",
"hgvs_p": "p.Val545Leu",
"transcript": "NM_018298.11",
"protein_id": "NP_060768.8",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 553,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370589.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018298.11"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCOLN3",
"gene_hgnc_id": 13358,
"hgvs_c": "c.1633G>T",
"hgvs_p": "p.Val545Leu",
"transcript": "ENST00000370589.7",
"protein_id": "ENSP00000359621.1",
"transcript_support_level": 1,
"aa_start": 545,
"aa_end": null,
"aa_length": 553,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018298.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370589.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCOLN3",
"gene_hgnc_id": 13358,
"hgvs_c": "c.1633G>T",
"hgvs_p": "p.Val545Leu",
"transcript": "ENST00000889288.1",
"protein_id": "ENSP00000559347.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 553,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889288.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCOLN3",
"gene_hgnc_id": 13358,
"hgvs_c": "c.1633G>T",
"hgvs_p": "p.Val545Leu",
"transcript": "ENST00000889289.1",
"protein_id": "ENSP00000559348.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 553,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889289.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCOLN3",
"gene_hgnc_id": 13358,
"hgvs_c": "c.1633G>T",
"hgvs_p": "p.Val545Leu",
"transcript": "ENST00000889291.1",
"protein_id": "ENSP00000559350.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 553,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889291.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCOLN3",
"gene_hgnc_id": 13358,
"hgvs_c": "c.1633G>T",
"hgvs_p": "p.Val545Leu",
"transcript": "ENST00000953532.1",
"protein_id": "ENSP00000623591.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 553,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953532.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCOLN3",
"gene_hgnc_id": 13358,
"hgvs_c": "c.1633G>T",
"hgvs_p": "p.Val545Leu",
"transcript": "ENST00000953537.1",
"protein_id": "ENSP00000623596.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 553,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953537.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCOLN3",
"gene_hgnc_id": 13358,
"hgvs_c": "c.1633G>T",
"hgvs_p": "p.Val545Leu",
"transcript": "ENST00000953538.1",
"protein_id": "ENSP00000623597.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 553,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953538.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCOLN3",
"gene_hgnc_id": 13358,
"hgvs_c": "c.1633G>T",
"hgvs_p": "p.Val545Leu",
"transcript": "ENST00000953540.1",
"protein_id": "ENSP00000623599.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 553,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953540.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCOLN3",
"gene_hgnc_id": 13358,
"hgvs_c": "c.1633G>T",
"hgvs_p": "p.Val545Leu",
"transcript": "ENST00000953541.1",
"protein_id": "ENSP00000623600.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 553,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953541.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCOLN3",
"gene_hgnc_id": 13358,
"hgvs_c": "c.1633G>T",
"hgvs_p": "p.Val545Leu",
"transcript": "ENST00000953542.1",
"protein_id": "ENSP00000623601.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 553,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953542.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCOLN3",
"gene_hgnc_id": 13358,
"hgvs_c": "c.1630G>T",
"hgvs_p": "p.Val544Leu",
"transcript": "ENST00000953534.1",
"protein_id": "ENSP00000623593.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 552,
"cds_start": 1630,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953534.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCOLN3",
"gene_hgnc_id": 13358,
"hgvs_c": "c.1624G>T",
"hgvs_p": "p.Val542Leu",
"transcript": "ENST00000953539.1",
"protein_id": "ENSP00000623598.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 550,
"cds_start": 1624,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953539.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCOLN3",
"gene_hgnc_id": 13358,
"hgvs_c": "c.1483G>T",
"hgvs_p": "p.Val495Leu",
"transcript": "ENST00000911967.1",
"protein_id": "ENSP00000582026.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 503,
"cds_start": 1483,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911967.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCOLN3",
"gene_hgnc_id": 13358,
"hgvs_c": "c.1483G>T",
"hgvs_p": "p.Val495Leu",
"transcript": "ENST00000953535.1",
"protein_id": "ENSP00000623594.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 503,
"cds_start": 1483,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953535.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCOLN3",
"gene_hgnc_id": 13358,
"hgvs_c": "c.1465G>T",
"hgvs_p": "p.Val489Leu",
"transcript": "NM_001253693.2",
"protein_id": "NP_001240622.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 497,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001253693.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCOLN3",
"gene_hgnc_id": 13358,
"hgvs_c": "c.1465G>T",
"hgvs_p": "p.Val489Leu",
"transcript": "ENST00000341115.8",
"protein_id": "ENSP00000342698.3",
"transcript_support_level": 2,
"aa_start": 489,
"aa_end": null,
"aa_length": 497,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341115.8"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCOLN3",
"gene_hgnc_id": 13358,
"hgvs_c": "c.1465G>T",
"hgvs_p": "p.Val489Leu",
"transcript": "ENST00000889290.1",
"protein_id": "ENSP00000559349.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 497,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889290.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCOLN3",
"gene_hgnc_id": 13358,
"hgvs_c": "c.1465G>T",
"hgvs_p": "p.Val489Leu",
"transcript": "ENST00000953536.1",
"protein_id": "ENSP00000623595.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 497,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953536.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCOLN3",
"gene_hgnc_id": 13358,
"hgvs_c": "c.1465G>T",
"hgvs_p": "p.Val489Leu",
"transcript": "ENST00000953543.1",
"protein_id": "ENSP00000623602.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 497,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953543.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCOLN3",
"gene_hgnc_id": 13358,
"hgvs_c": "c.1252G>T",
"hgvs_p": "p.Val418Leu",
"transcript": "ENST00000953533.1",
"protein_id": "ENSP00000623592.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 426,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953533.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCOLN3",
"gene_hgnc_id": 13358,
"hgvs_c": "c.1705G>T",
"hgvs_p": "p.Val569Leu",
"transcript": "XM_011541739.3",
"protein_id": "XP_011540041.3",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 577,
"cds_start": 1705,
"cds_end": null,
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}
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}