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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: 2-241755892-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=241755892&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 241755892,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_152783.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1184G>A",
"hgvs_p": "p.Arg395Gln",
"transcript": "NM_152783.5",
"protein_id": "NP_689996.4",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 521,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000321264.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152783.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1184G>A",
"hgvs_p": "p.Arg395Gln",
"transcript": "ENST00000321264.9",
"protein_id": "ENSP00000315351.4",
"transcript_support_level": 1,
"aa_start": 395,
"aa_end": null,
"aa_length": 521,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152783.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321264.9"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "n.*2420G>A",
"hgvs_p": null,
"transcript": "ENST00000436747.5",
"protein_id": "ENSP00000400212.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000436747.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "n.1074G>A",
"hgvs_p": null,
"transcript": "ENST00000468064.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000468064.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "n.665G>A",
"hgvs_p": null,
"transcript": "ENST00000470343.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000470343.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "n.383G>A",
"hgvs_p": null,
"transcript": "ENST00000473126.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000473126.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "n.1011G>A",
"hgvs_p": null,
"transcript": "ENST00000486953.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000486953.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "n.*2420G>A",
"hgvs_p": null,
"transcript": "ENST00000436747.5",
"protein_id": "ENSP00000400212.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000436747.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1409G>A",
"hgvs_p": "p.Arg470Gln",
"transcript": "ENST00000951632.1",
"protein_id": "ENSP00000621691.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 596,
"cds_start": 1409,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951632.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1370G>A",
"hgvs_p": "p.Arg457Gln",
"transcript": "ENST00000951631.1",
"protein_id": "ENSP00000621690.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 583,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951631.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421Gln",
"transcript": "ENST00000951636.1",
"protein_id": "ENSP00000621695.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 561,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951636.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1265G>A",
"hgvs_p": "p.Arg422Gln",
"transcript": "ENST00000951634.1",
"protein_id": "ENSP00000621693.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 548,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951634.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421Gln",
"transcript": "ENST00000910513.1",
"protein_id": "ENSP00000580572.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 547,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910513.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421Gln",
"transcript": "ENST00000910524.1",
"protein_id": "ENSP00000580583.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 547,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910524.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421Gln",
"transcript": "ENST00000910522.1",
"protein_id": "ENSP00000580581.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 546,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910522.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1184G>A",
"hgvs_p": "p.Arg395Gln",
"transcript": "ENST00000910517.1",
"protein_id": "ENSP00000580576.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 535,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910517.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1202G>A",
"hgvs_p": "p.Arg401Gln",
"transcript": "ENST00000910519.1",
"protein_id": "ENSP00000580578.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 527,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910519.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1184G>A",
"hgvs_p": "p.Arg395Gln",
"transcript": "ENST00000910514.1",
"protein_id": "ENSP00000580573.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 521,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910514.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1184G>A",
"hgvs_p": "p.Arg395Gln",
"transcript": "ENST00000910520.1",
"protein_id": "ENSP00000580579.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 521,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910520.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1184G>A",
"hgvs_p": "p.Arg395Gln",
"transcript": "ENST00000910515.1",
"protein_id": "ENSP00000580574.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 520,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910515.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1181G>A",
"hgvs_p": "p.Arg394Gln",
"transcript": "ENST00000951635.1",
"protein_id": "ENSP00000621694.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 520,
"cds_start": 1181,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951635.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "D2HGDH",
"gene_hgnc_id": 28358,
"hgvs_c": "c.1082G>A",
"hgvs_p": "p.Arg361Gln",
"transcript": "ENST00000910516.1",
"protein_id": "ENSP00000580575.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 487,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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}
],
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}