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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: 1-100877827-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=100877827&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 100877827,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001261441.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.82G>C",
"hgvs_p": "p.Val28Leu",
"transcript": "NM_001033025.3",
"protein_id": "NP_001028197.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 330,
"cds_start": 82,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370114.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001033025.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.82G>C",
"hgvs_p": "p.Val28Leu",
"transcript": "ENST00000370114.8",
"protein_id": "ENSP00000359132.3",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 330,
"cds_start": 82,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001033025.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370114.8"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.82G>C",
"hgvs_p": "p.Val28Leu",
"transcript": "ENST00000370113.7",
"protein_id": "ENSP00000359131.3",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 330,
"cds_start": 82,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370113.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.106G>C",
"hgvs_p": "p.Val36Leu",
"transcript": "NM_001261441.2",
"protein_id": "NP_001248370.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 338,
"cds_start": 106,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261441.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.106G>C",
"hgvs_p": "p.Val36Leu",
"transcript": "ENST00000886545.1",
"protein_id": "ENSP00000556603.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 338,
"cds_start": 106,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886545.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.82G>C",
"hgvs_p": "p.Val28Leu",
"transcript": "NM_001439.4",
"protein_id": "NP_001430.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 330,
"cds_start": 82,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.82G>C",
"hgvs_p": "p.Val28Leu",
"transcript": "ENST00000886539.1",
"protein_id": "ENSP00000556598.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 330,
"cds_start": 82,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886539.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.82G>C",
"hgvs_p": "p.Val28Leu",
"transcript": "ENST00000886540.1",
"protein_id": "ENSP00000556599.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 330,
"cds_start": 82,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886540.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.82G>C",
"hgvs_p": "p.Val28Leu",
"transcript": "ENST00000886541.1",
"protein_id": "ENSP00000556600.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 330,
"cds_start": 82,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886541.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.82G>C",
"hgvs_p": "p.Val28Leu",
"transcript": "ENST00000886546.1",
"protein_id": "ENSP00000556604.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 330,
"cds_start": 82,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886546.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.82G>C",
"hgvs_p": "p.Val28Leu",
"transcript": "ENST00000886547.1",
"protein_id": "ENSP00000556605.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 330,
"cds_start": 82,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886547.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.82G>C",
"hgvs_p": "p.Val28Leu",
"transcript": "ENST00000939947.1",
"protein_id": "ENSP00000610006.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 330,
"cds_start": 82,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939947.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.82G>C",
"hgvs_p": "p.Val28Leu",
"transcript": "ENST00000939949.1",
"protein_id": "ENSP00000610008.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 330,
"cds_start": 82,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939949.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.82G>C",
"hgvs_p": "p.Val28Leu",
"transcript": "NM_001261440.2",
"protein_id": "NP_001248369.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 329,
"cds_start": 82,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261440.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.82G>C",
"hgvs_p": "p.Val28Leu",
"transcript": "ENST00000886538.1",
"protein_id": "ENSP00000556597.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 329,
"cds_start": 82,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886538.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.82G>C",
"hgvs_p": "p.Val28Leu",
"transcript": "ENST00000886542.1",
"protein_id": "ENSP00000556601.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 329,
"cds_start": 82,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886542.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.82G>C",
"hgvs_p": "p.Val28Leu",
"transcript": "ENST00000886544.1",
"protein_id": "ENSP00000556602.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 329,
"cds_start": 82,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886544.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.82G>C",
"hgvs_p": "p.Val28Leu",
"transcript": "ENST00000939948.1",
"protein_id": "ENSP00000610007.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 329,
"cds_start": 82,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939948.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.106G>C",
"hgvs_p": "p.Val36Leu",
"transcript": "ENST00000450240.2",
"protein_id": "ENSP00000403363.1",
"transcript_support_level": 4,
"aa_start": 36,
"aa_end": null,
"aa_length": 265,
"cds_start": 106,
"cds_end": null,
"cds_length": 799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450240.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.82G>C",
"hgvs_p": "p.Val28Leu",
"transcript": "NM_001261442.2",
"protein_id": "NP_001248371.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 147,
"cds_start": 82,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001261442.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.82G>C",
"hgvs_p": "p.Val28Leu",
"transcript": "ENST00000535414.5",
"protein_id": "ENSP00000444385.2",
"transcript_support_level": 5,
"aa_start": 28,
"aa_end": null,
"aa_length": 147,
"cds_start": 82,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535414.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXTL2",
"gene_hgnc_id": 3516,
"hgvs_c": "c.43G>C",
"hgvs_p": "p.Val15Leu",
"transcript": "ENST00000416479.1",
"protein_id": "ENSP00000392255.1",
"transcript_support_level": 2,
"aa_start": 15,
"aa_end": null,
"aa_length": 116,
"cds_start": 43,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416479.1"
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}