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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: 5-178210245-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=178210245&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 178210245,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_031266.3",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPAB",
"gene_hgnc_id": 5034,
"hgvs_c": "c.901T>C",
"hgvs_p": "p.Tyr301His",
"transcript": "NM_031266.3",
"protein_id": "NP_112556.2",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 332,
"cds_start": 901,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358344.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031266.3"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPAB",
"gene_hgnc_id": 5034,
"hgvs_c": "c.901T>C",
"hgvs_p": "p.Tyr301His",
"transcript": "ENST00000358344.8",
"protein_id": "ENSP00000351108.3",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 332,
"cds_start": 901,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031266.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358344.8"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPAB",
"gene_hgnc_id": 5034,
"hgvs_c": "c.901T>C",
"hgvs_p": "p.Tyr301His",
"transcript": "ENST00000504898.5",
"protein_id": "ENSP00000425031.1",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 332,
"cds_start": 901,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504898.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.*32-1330A>G",
"hgvs_p": null,
"transcript": "NM_153373.4",
"protein_id": "NP_699204.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 450,
"cds_start": null,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000308158.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153373.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.*32-1330A>G",
"hgvs_p": null,
"transcript": "ENST00000308158.10",
"protein_id": "ENSP00000310978.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 450,
"cds_start": null,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_153373.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308158.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "HNRNPAB",
"gene_hgnc_id": 5034,
"hgvs_c": "c.788-308T>C",
"hgvs_p": null,
"transcript": "ENST00000355836.9",
"protein_id": "ENSP00000348093.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 285,
"cds_start": null,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355836.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "HNRNPAB",
"gene_hgnc_id": 5034,
"hgvs_c": "c.788-308T>C",
"hgvs_p": null,
"transcript": "ENST00000506259.5",
"protein_id": "ENSP00000427465.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 285,
"cds_start": null,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506259.5"
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "n.*773-1330A>G",
"hgvs_p": null,
"transcript": "ENST00000474052.5",
"protein_id": "ENSP00000423806.1",
"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": "ENST00000474052.5"
},
{
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "n.2026-1330A>G",
"hgvs_p": null,
"transcript": "ENST00000494126.6",
"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": "ENST00000494126.6"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPAB",
"gene_hgnc_id": 5034,
"hgvs_c": "c.901T>C",
"hgvs_p": "p.Tyr301His",
"transcript": "NM_001437957.1",
"protein_id": "NP_001424886.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 332,
"cds_start": 901,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437957.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPAB",
"gene_hgnc_id": 5034,
"hgvs_c": "c.901T>C",
"hgvs_p": "p.Tyr301His",
"transcript": "ENST00000885118.1",
"protein_id": "ENSP00000555177.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 332,
"cds_start": 901,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885118.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPAB",
"gene_hgnc_id": 5034,
"hgvs_c": "c.901T>C",
"hgvs_p": "p.Tyr301His",
"transcript": "ENST00000885120.1",
"protein_id": "ENSP00000555179.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 332,
"cds_start": 901,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885120.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPAB",
"gene_hgnc_id": 5034,
"hgvs_c": "c.901T>C",
"hgvs_p": "p.Tyr301His",
"transcript": "ENST00000916337.1",
"protein_id": "ENSP00000586396.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 332,
"cds_start": 901,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916337.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPAB",
"gene_hgnc_id": 5034,
"hgvs_c": "c.901T>C",
"hgvs_p": "p.Tyr301His",
"transcript": "ENST00000916341.1",
"protein_id": "ENSP00000586400.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 332,
"cds_start": 901,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916341.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPAB",
"gene_hgnc_id": 5034,
"hgvs_c": "c.901T>C",
"hgvs_p": "p.Tyr301His",
"transcript": "ENST00000916343.1",
"protein_id": "ENSP00000586402.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 332,
"cds_start": 901,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916343.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPAB",
"gene_hgnc_id": 5034,
"hgvs_c": "c.895T>C",
"hgvs_p": "p.Tyr299His",
"transcript": "ENST00000916339.1",
"protein_id": "ENSP00000586398.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 330,
"cds_start": 895,
"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": "ENST00000916339.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPAB",
"gene_hgnc_id": 5034,
"hgvs_c": "c.886T>C",
"hgvs_p": "p.Tyr296His",
"transcript": "ENST00000506339.5",
"protein_id": "ENSP00000422501.1",
"transcript_support_level": 5,
"aa_start": 296,
"aa_end": null,
"aa_length": 327,
"cds_start": 886,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506339.5"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPAB",
"gene_hgnc_id": 5034,
"hgvs_c": "c.868T>C",
"hgvs_p": "p.Tyr290His",
"transcript": "ENST00000885119.1",
"protein_id": "ENSP00000555178.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 321,
"cds_start": 868,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885119.1"
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPAB",
"gene_hgnc_id": 5034,
"hgvs_c": "c.466T>C",
"hgvs_p": "p.Tyr156His",
"transcript": "NM_001437960.1",
"protein_id": "NP_001424889.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 187,
"cds_start": 466,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437960.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.*1676A>G",
"hgvs_p": null,
"transcript": "ENST00000916242.1",
"protein_id": "ENSP00000586301.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 109,
"cds_start": null,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916242.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.*32-1330A>G",
"hgvs_p": null,
"transcript": "ENST00000962530.1",
"protein_id": "ENSP00000632589.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 502,
"cds_start": null,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962530.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.*32-1330A>G",
"hgvs_p": null,
"transcript": "ENST00000323594.9",
"protein_id": "ENSP00000321290.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 464,
"cds_start": null,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323594.9"
},
{
"aa_ref": null,
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"phenotype_combined": "not specified",
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}
],
"message": null
}