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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: 18-48619719-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=48619719&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 48619719,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001142397.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTIF",
"gene_hgnc_id": 23925,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Glu52Gln",
"transcript": "NM_014772.3",
"protein_id": "NP_055587.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 598,
"cds_start": 154,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000256413.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014772.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTIF",
"gene_hgnc_id": 23925,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Glu52Gln",
"transcript": "ENST00000256413.8",
"protein_id": "ENSP00000256413.3",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 598,
"cds_start": 154,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014772.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000256413.8"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTIF",
"gene_hgnc_id": 23925,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Glu52Gln",
"transcript": "ENST00000382998.8",
"protein_id": "ENSP00000372459.3",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 600,
"cds_start": 154,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382998.8"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTIF",
"gene_hgnc_id": 23925,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Glu52Gln",
"transcript": "ENST00000865538.1",
"protein_id": "ENSP00000535597.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 616,
"cds_start": 154,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865538.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTIF",
"gene_hgnc_id": 23925,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Glu52Gln",
"transcript": "ENST00000959044.1",
"protein_id": "ENSP00000629103.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 616,
"cds_start": 154,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959044.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTIF",
"gene_hgnc_id": 23925,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Glu52Gln",
"transcript": "ENST00000959046.1",
"protein_id": "ENSP00000629105.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 616,
"cds_start": 154,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959046.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTIF",
"gene_hgnc_id": 23925,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Glu52Gln",
"transcript": "ENST00000959048.1",
"protein_id": "ENSP00000629107.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 616,
"cds_start": 154,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959048.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTIF",
"gene_hgnc_id": 23925,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Glu52Gln",
"transcript": "ENST00000959053.1",
"protein_id": "ENSP00000629112.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 616,
"cds_start": 154,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959053.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTIF",
"gene_hgnc_id": 23925,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Glu52Gln",
"transcript": "ENST00000865532.1",
"protein_id": "ENSP00000535591.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 614,
"cds_start": 154,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865532.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTIF",
"gene_hgnc_id": 23925,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Glu52Gln",
"transcript": "ENST00000865534.1",
"protein_id": "ENSP00000535593.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 614,
"cds_start": 154,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865534.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTIF",
"gene_hgnc_id": 23925,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Glu52Gln",
"transcript": "ENST00000959049.1",
"protein_id": "ENSP00000629108.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 614,
"cds_start": 154,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959049.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTIF",
"gene_hgnc_id": 23925,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Glu52Gln",
"transcript": "ENST00000959051.1",
"protein_id": "ENSP00000629110.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 614,
"cds_start": 154,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959051.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTIF",
"gene_hgnc_id": 23925,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Glu52Gln",
"transcript": "ENST00000959052.1",
"protein_id": "ENSP00000629111.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 614,
"cds_start": 154,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959052.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTIF",
"gene_hgnc_id": 23925,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Glu52Gln",
"transcript": "ENST00000959042.1",
"protein_id": "ENSP00000629101.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 613,
"cds_start": 154,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959042.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTIF",
"gene_hgnc_id": 23925,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Glu52Gln",
"transcript": "ENST00000959050.1",
"protein_id": "ENSP00000629109.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 613,
"cds_start": 154,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959050.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTIF",
"gene_hgnc_id": 23925,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Glu52Gln",
"transcript": "NM_001142397.2",
"protein_id": "NP_001135869.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 600,
"cds_start": 154,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142397.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTIF",
"gene_hgnc_id": 23925,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Glu52Gln",
"transcript": "ENST00000865528.1",
"protein_id": "ENSP00000535587.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 600,
"cds_start": 154,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865528.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTIF",
"gene_hgnc_id": 23925,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Glu52Gln",
"transcript": "ENST00000865535.1",
"protein_id": "ENSP00000535594.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 600,
"cds_start": 154,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865535.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTIF",
"gene_hgnc_id": 23925,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Glu52Gln",
"transcript": "ENST00000865539.1",
"protein_id": "ENSP00000535598.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 600,
"cds_start": 154,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865539.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTIF",
"gene_hgnc_id": 23925,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Glu52Gln",
"transcript": "ENST00000959055.1",
"protein_id": "ENSP00000629114.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 600,
"cds_start": 154,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959055.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTIF",
"gene_hgnc_id": 23925,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Glu52Gln",
"transcript": "ENST00000865529.1",
"protein_id": "ENSP00000535588.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 598,
"cds_start": 154,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865529.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTIF",
"gene_hgnc_id": 23925,
"hgvs_c": "c.154G>C",
"hgvs_p": "p.Glu52Gln",
"transcript": "ENST00000865533.1",
"protein_id": "ENSP00000535592.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 598,
"cds_start": 154,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865533.1"
},
{
"aa_ref": "E",
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}