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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: 18-21449695-AC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=21449695&ref=AC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 21449695,
"ref": "AC",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000424526.7",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.1582delC",
"hgvs_p": "p.Gln528fs",
"transcript": "NM_001142966.3",
"protein_id": "NP_001136438.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 1923,
"cds_start": 1582,
"cds_end": null,
"cds_length": 5772,
"cdna_start": 1863,
"cdna_end": null,
"cdna_length": 9344,
"mane_select": "ENST00000424526.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.1582delC",
"hgvs_p": "p.Gln528fs",
"transcript": "ENST00000424526.7",
"protein_id": "ENSP00000412060.1",
"transcript_support_level": 5,
"aa_start": 528,
"aa_end": null,
"aa_length": 1923,
"cds_start": 1582,
"cds_end": null,
"cds_length": 5772,
"cdna_start": 1863,
"cdna_end": null,
"cdna_length": 9344,
"mane_select": "NM_001142966.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "n.1687delC",
"hgvs_p": null,
"transcript": "ENST00000578368.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "n.1853delC",
"hgvs_p": null,
"transcript": "ENST00000584446.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.1711delC",
"hgvs_p": "p.Gln571fs",
"transcript": "NM_001410867.1",
"protein_id": "NP_001397796.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 1966,
"cds_start": 1711,
"cds_end": null,
"cds_length": 5901,
"cdna_start": 1992,
"cdna_end": null,
"cdna_length": 9473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.1711delC",
"hgvs_p": "p.Gln571fs",
"transcript": "ENST00000579454.2",
"protein_id": "ENSP00000463926.2",
"transcript_support_level": 5,
"aa_start": 571,
"aa_end": null,
"aa_length": 1966,
"cds_start": 1711,
"cds_end": null,
"cds_length": 5901,
"cdna_start": 1965,
"cdna_end": null,
"cdna_length": 6155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.1582delC",
"hgvs_p": "p.Gln528fs",
"transcript": "ENST00000580732.6",
"protein_id": "ENSP00000464162.1",
"transcript_support_level": 5,
"aa_start": 528,
"aa_end": null,
"aa_length": 1923,
"cds_start": 1582,
"cds_end": null,
"cds_length": 5772,
"cdna_start": 1963,
"cdna_end": null,
"cdna_length": 8749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.64delC",
"hgvs_p": "p.Gln22fs",
"transcript": "ENST00000581327.1",
"protein_id": "ENSP00000463976.1",
"transcript_support_level": 3,
"aa_start": 22,
"aa_end": null,
"aa_length": 175,
"cds_start": 64,
"cds_end": null,
"cds_length": 528,
"cdna_start": 64,
"cdna_end": null,
"cdna_length": 682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.1711delC",
"hgvs_p": "p.Gln571fs",
"transcript": "XM_017025989.2",
"protein_id": "XP_016881478.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 1998,
"cds_start": 1711,
"cds_end": null,
"cds_length": 5997,
"cdna_start": 1882,
"cdna_end": null,
"cdna_length": 7472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.1711delC",
"hgvs_p": "p.Gln571fs",
"transcript": "XM_047437809.1",
"protein_id": "XP_047293765.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 1998,
"cds_start": 1711,
"cds_end": null,
"cds_length": 5997,
"cdna_start": 1992,
"cdna_end": null,
"cdna_length": 7582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.1711delC",
"hgvs_p": "p.Gln571fs",
"transcript": "XM_047437810.1",
"protein_id": "XP_047293766.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 1998,
"cds_start": 1711,
"cds_end": null,
"cds_length": 5997,
"cdna_start": 2070,
"cdna_end": null,
"cdna_length": 7660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.1711delC",
"hgvs_p": "p.Gln571fs",
"transcript": "XM_017025990.2",
"protein_id": "XP_016881479.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 1997,
"cds_start": 1711,
"cds_end": null,
"cds_length": 5994,
"cdna_start": 1992,
"cdna_end": null,
"cdna_length": 7579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.1711delC",
"hgvs_p": "p.Gln571fs",
"transcript": "XM_017025991.2",
"protein_id": "XP_016881480.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 1970,
"cds_start": 1711,
"cds_end": null,
"cds_length": 5913,
"cdna_start": 1992,
"cdna_end": null,
"cdna_length": 7498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.1711delC",
"hgvs_p": "p.Gln571fs",
"transcript": "XM_047437811.1",
"protein_id": "XP_047293767.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 1969,
"cds_start": 1711,
"cds_end": null,
"cds_length": 5910,
"cdna_start": 1992,
"cdna_end": null,
"cdna_length": 7495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.1711delC",
"hgvs_p": "p.Gln571fs",
"transcript": "XM_006722547.4",
"protein_id": "XP_006722610.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 1967,
"cds_start": 1711,
"cds_end": null,
"cds_length": 5904,
"cdna_start": 1992,
"cdna_end": null,
"cdna_length": 9476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.1582delC",
"hgvs_p": "p.Gln528fs",
"transcript": "XM_017025993.2",
"protein_id": "XP_016881482.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 1955,
"cds_start": 1582,
"cds_end": null,
"cds_length": 5868,
"cdna_start": 1753,
"cdna_end": null,
"cdna_length": 7343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.1582delC",
"hgvs_p": "p.Gln528fs",
"transcript": "XM_047437813.1",
"protein_id": "XP_047293769.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 1955,
"cds_start": 1582,
"cds_end": null,
"cds_length": 5868,
"cdna_start": 1863,
"cdna_end": null,
"cdna_length": 7453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.1582delC",
"hgvs_p": "p.Gln528fs",
"transcript": "XM_047437814.1",
"protein_id": "XP_047293770.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 1955,
"cds_start": 1582,
"cds_end": null,
"cds_length": 5868,
"cdna_start": 1941,
"cdna_end": null,
"cdna_length": 7531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.1582delC",
"hgvs_p": "p.Gln528fs",
"transcript": "XM_047437815.1",
"protein_id": "XP_047293771.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 1954,
"cds_start": 1582,
"cds_end": null,
"cds_length": 5865,
"cdna_start": 1863,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.1711delC",
"hgvs_p": "p.Gln571fs",
"transcript": "XM_047437816.1",
"protein_id": "XP_047293772.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 1938,
"cds_start": 1711,
"cds_end": null,
"cds_length": 5817,
"cdna_start": 1992,
"cdna_end": null,
"cdna_length": 9389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.1582delC",
"hgvs_p": "p.Gln528fs",
"transcript": "XM_047437817.1",
"protein_id": "XP_047293773.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 1927,
"cds_start": 1582,
"cds_end": null,
"cds_length": 5784,
"cdna_start": 1863,
"cdna_end": null,
"cdna_length": 7369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.1582delC",
"hgvs_p": "p.Gln528fs",
"transcript": "XM_047437818.1",
"protein_id": "XP_047293774.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 1924,
"cds_start": 1582,
"cds_end": null,
"cds_length": 5775,
"cdna_start": 1753,
"cdna_end": null,
"cdna_length": 9237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.1582delC",
"hgvs_p": "p.Gln528fs",
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}
],
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}