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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: 11-581547-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=581547&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 581547,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001286581.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.35G>C",
"hgvs_p": "p.Arg12Pro",
"transcript": "NM_001286581.2",
"protein_id": "NP_001273510.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1649,
"cds_start": 35,
"cds_end": null,
"cds_length": 4950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264555.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286581.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.35G>C",
"hgvs_p": "p.Arg12Pro",
"transcript": "ENST00000264555.10",
"protein_id": "ENSP00000264555.5",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 1649,
"cds_start": 35,
"cds_end": null,
"cds_length": 4950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001286581.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264555.10"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.35G>C",
"hgvs_p": "p.Arg12Pro",
"transcript": "ENST00000416188.3",
"protein_id": "ENSP00000410626.2",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 1648,
"cds_start": 35,
"cds_end": null,
"cds_length": 4947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416188.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.35G>C",
"hgvs_p": "p.Arg12Pro",
"transcript": "ENST00000413872.6",
"protein_id": "ENSP00000388589.2",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 1647,
"cds_start": 35,
"cds_end": null,
"cds_length": 4944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413872.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.35G>C",
"hgvs_p": "p.Arg12Pro",
"transcript": "ENST00000533464.5",
"protein_id": "ENSP00000431870.1",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 1645,
"cds_start": 35,
"cds_end": null,
"cds_length": 4938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533464.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.35G>C",
"hgvs_p": "p.Arg12Pro",
"transcript": "ENST00000919859.1",
"protein_id": "ENSP00000589918.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1664,
"cds_start": 35,
"cds_end": null,
"cds_length": 4995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919859.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.35G>C",
"hgvs_p": "p.Arg12Pro",
"transcript": "ENST00000941193.1",
"protein_id": "ENSP00000611252.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1649,
"cds_start": 35,
"cds_end": null,
"cds_length": 4950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941193.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.35G>C",
"hgvs_p": "p.Arg12Pro",
"transcript": "NM_020901.4",
"protein_id": "NP_065952.2",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1648,
"cds_start": 35,
"cds_end": null,
"cds_length": 4947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020901.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.35G>C",
"hgvs_p": "p.Arg12Pro",
"transcript": "ENST00000858731.1",
"protein_id": "ENSP00000528790.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1648,
"cds_start": 35,
"cds_end": null,
"cds_length": 4947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858731.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.35G>C",
"hgvs_p": "p.Arg12Pro",
"transcript": "ENST00000858740.1",
"protein_id": "ENSP00000528799.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1648,
"cds_start": 35,
"cds_end": null,
"cds_length": 4947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858740.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.35G>C",
"hgvs_p": "p.Arg12Pro",
"transcript": "NM_001286582.2",
"protein_id": "NP_001273511.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1647,
"cds_start": 35,
"cds_end": null,
"cds_length": 4944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286582.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.35G>C",
"hgvs_p": "p.Arg12Pro",
"transcript": "ENST00000858737.1",
"protein_id": "ENSP00000528796.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1647,
"cds_start": 35,
"cds_end": null,
"cds_length": 4944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858737.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.35G>C",
"hgvs_p": "p.Arg12Pro",
"transcript": "ENST00000919858.1",
"protein_id": "ENSP00000589917.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1647,
"cds_start": 35,
"cds_end": null,
"cds_length": 4944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919858.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.35G>C",
"hgvs_p": "p.Arg12Pro",
"transcript": "ENST00000858733.1",
"protein_id": "ENSP00000528792.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1646,
"cds_start": 35,
"cds_end": null,
"cds_length": 4941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858733.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.35G>C",
"hgvs_p": "p.Arg12Pro",
"transcript": "ENST00000858739.1",
"protein_id": "ENSP00000528798.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1646,
"cds_start": 35,
"cds_end": null,
"cds_length": 4941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858739.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.35G>C",
"hgvs_p": "p.Arg12Pro",
"transcript": "ENST00000858741.1",
"protein_id": "ENSP00000528800.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1646,
"cds_start": 35,
"cds_end": null,
"cds_length": 4941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858741.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.35G>C",
"hgvs_p": "p.Arg12Pro",
"transcript": "ENST00000858745.1",
"protein_id": "ENSP00000528804.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1646,
"cds_start": 35,
"cds_end": null,
"cds_length": 4941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858745.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.35G>C",
"hgvs_p": "p.Arg12Pro",
"transcript": "NM_001286583.2",
"protein_id": "NP_001273512.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1645,
"cds_start": 35,
"cds_end": null,
"cds_length": 4938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286583.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.35G>C",
"hgvs_p": "p.Arg12Pro",
"transcript": "ENST00000858730.1",
"protein_id": "ENSP00000528789.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1645,
"cds_start": 35,
"cds_end": null,
"cds_length": 4938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858730.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.35G>C",
"hgvs_p": "p.Arg12Pro",
"transcript": "ENST00000858742.1",
"protein_id": "ENSP00000528801.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1645,
"cds_start": 35,
"cds_end": null,
"cds_length": 4938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858742.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.35G>C",
"hgvs_p": "p.Arg12Pro",
"transcript": "ENST00000858738.1",
"protein_id": "ENSP00000528797.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1644,
"cds_start": 35,
"cds_end": null,
"cds_length": 4935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858738.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHRF1",
"gene_hgnc_id": 24351,
"hgvs_c": "c.35G>C",
"hgvs_p": "p.Arg12Pro",
"transcript": "ENST00000919860.1",
"protein_id": "ENSP00000589919.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1644,
"cds_start": 35,
"cds_end": null,
"cds_length": 4935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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