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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: 7-44002712-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=44002712&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 44002712,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001378423.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPDYE1",
"gene_hgnc_id": 16408,
"hgvs_c": "c.502G>A",
"hgvs_p": "p.Glu168Lys",
"transcript": "NM_001378423.2",
"protein_id": "NP_001365352.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 376,
"cds_start": 502,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 3119,
"mane_select": "ENST00000693451.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378423.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPDYE1",
"gene_hgnc_id": 16408,
"hgvs_c": "c.502G>A",
"hgvs_p": "p.Glu168Lys",
"transcript": "ENST00000693451.1",
"protein_id": "ENSP00000509569.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 376,
"cds_start": 502,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 3119,
"mane_select": "NM_001378423.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693451.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPDYE1",
"gene_hgnc_id": 16408,
"hgvs_c": "c.382G>A",
"hgvs_p": "p.Glu128Lys",
"transcript": "ENST00000258704.3",
"protein_id": "ENSP00000258704.3",
"transcript_support_level": 1,
"aa_start": 128,
"aa_end": null,
"aa_length": 336,
"cds_start": 382,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 2649,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258704.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "POLR2J4",
"gene_hgnc_id": null,
"hgvs_c": "n.444+10881C>T",
"hgvs_p": null,
"transcript": "ENST00000427076.5",
"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": 6466,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000427076.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "POLR2J4",
"gene_hgnc_id": null,
"hgvs_c": "n.268+10881C>T",
"hgvs_p": null,
"transcript": "ENST00000454572.1",
"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": 2076,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000454572.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPDYE1",
"gene_hgnc_id": 16408,
"hgvs_c": "c.502G>A",
"hgvs_p": "p.Glu168Lys",
"transcript": "ENST00000652520.1",
"protein_id": "ENSP00000499187.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 376,
"cds_start": 502,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 584,
"cdna_end": null,
"cdna_length": 1450,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652520.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPDYE1",
"gene_hgnc_id": 16408,
"hgvs_c": "c.382G>A",
"hgvs_p": "p.Glu128Lys",
"transcript": "NM_175064.4",
"protein_id": "NP_778234.2",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 336,
"cds_start": 382,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 468,
"cdna_end": null,
"cdna_length": 2600,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_175064.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPDYE1",
"gene_hgnc_id": 16408,
"hgvs_c": "c.502G>A",
"hgvs_p": "p.Glu168Lys",
"transcript": "XM_017012015.2",
"protein_id": "XP_016867504.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 376,
"cds_start": 502,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 958,
"cdna_end": null,
"cdna_length": 3090,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012015.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPDYE1",
"gene_hgnc_id": 16408,
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Glu65Lys",
"transcript": "XM_017012016.3",
"protein_id": "XP_016867505.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 273,
"cds_start": 193,
"cds_end": null,
"cds_length": 822,
"cdna_start": 405,
"cdna_end": null,
"cdna_length": 2537,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017012016.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPDYE1",
"gene_hgnc_id": 16408,
"hgvs_c": "c.502G>A",
"hgvs_p": "p.Glu168Lys",
"transcript": "XM_047420215.1",
"protein_id": "XP_047276171.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 226,
"cds_start": 502,
"cds_end": null,
"cds_length": 681,
"cdna_start": 987,
"cdna_end": null,
"cdna_length": 1236,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420215.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "POLR2J4",
"gene_hgnc_id": null,
"hgvs_c": "n.302+10881C>T",
"hgvs_p": null,
"transcript": "ENST00000422304.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 2007,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000422304.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "POLR2J4",
"gene_hgnc_id": null,
"hgvs_c": "n.771+4476C>T",
"hgvs_p": null,
"transcript": "ENST00000715436.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1330,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000715436.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "POLR2J4",
"gene_hgnc_id": null,
"hgvs_c": "n.810-2594C>T",
"hgvs_p": null,
"transcript": "ENST00000715437.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1929,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000715437.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "POLR2J4",
"gene_hgnc_id": null,
"hgvs_c": "n.364+10881C>T",
"hgvs_p": null,
"transcript": "ENST00000786522.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1889,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000786522.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "POLR2J4",
"gene_hgnc_id": null,
"hgvs_c": "n.302+10881C>T",
"hgvs_p": null,
"transcript": "ENST00000786523.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1678,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000786523.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POLR2J4",
"gene_hgnc_id": null,
"hgvs_c": "n.202+13722C>T",
"hgvs_p": null,
"transcript": "ENST00000786524.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1817,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000786524.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "POLR2J4",
"gene_hgnc_id": null,
"hgvs_c": "n.294+10881C>T",
"hgvs_p": null,
"transcript": "ENST00000786525.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2092,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000786525.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "POLR2J4",
"gene_hgnc_id": null,
"hgvs_c": "n.380+11894C>T",
"hgvs_p": null,
"transcript": "ENST00000786526.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1636,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000786526.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "POLR2J4",
"gene_hgnc_id": null,
"hgvs_c": "n.202+13722C>T",
"hgvs_p": null,
"transcript": "ENST00000786527.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 1553,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000786527.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "POLR2J4",
"gene_hgnc_id": null,
"hgvs_c": "n.467+10881C>T",
"hgvs_p": null,
"transcript": "ENST00000786528.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2290,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000786528.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "POLR2J4",
"gene_hgnc_id": null,
"hgvs_c": "n.270+10881C>T",
"hgvs_p": null,
"transcript": "ENST00000786529.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1537,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000786529.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "POLR2J4",
"gene_hgnc_id": null,
"hgvs_c": "n.278+10881C>T",
"hgvs_p": null,
"transcript": "ENST00000786530.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2098,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000786530.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "POLR2J4",
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"phenotype_combined": "not specified",
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}