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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: 11-45949458-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=45949458&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 45949458,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001441167.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1171C>A",
"hgvs_p": "p.Arg391Arg",
"transcript": "NM_001352027.3",
"protein_id": "NP_001338956.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 681,
"cds_start": 1171,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000676320.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352027.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1171C>A",
"hgvs_p": "p.Arg391Arg",
"transcript": "ENST00000676320.1",
"protein_id": "ENSP00000502222.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 681,
"cds_start": 1171,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001352027.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676320.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1171C>A",
"hgvs_p": "p.Arg391Arg",
"transcript": "ENST00000323180.10",
"protein_id": "ENSP00000323152.6",
"transcript_support_level": 1,
"aa_start": 391,
"aa_end": null,
"aa_length": 634,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323180.10"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1192C>A",
"hgvs_p": "p.Arg398Arg",
"transcript": "NM_001441167.1",
"protein_id": "NP_001428096.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 688,
"cds_start": 1192,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441167.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1192C>A",
"hgvs_p": "p.Arg398Arg",
"transcript": "NM_001441168.1",
"protein_id": "NP_001428097.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 688,
"cds_start": 1192,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441168.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1189C>A",
"hgvs_p": "p.Arg397Arg",
"transcript": "NM_001441169.1",
"protein_id": "NP_001428098.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 687,
"cds_start": 1189,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441169.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1189C>A",
"hgvs_p": "p.Arg397Arg",
"transcript": "ENST00000863274.1",
"protein_id": "ENSP00000533333.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 687,
"cds_start": 1189,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863274.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1171C>A",
"hgvs_p": "p.Arg391Arg",
"transcript": "NM_001352025.3",
"protein_id": "NP_001338954.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 681,
"cds_start": 1171,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352025.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1171C>A",
"hgvs_p": "p.Arg391Arg",
"transcript": "NM_001352026.3",
"protein_id": "NP_001338955.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 681,
"cds_start": 1171,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352026.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1171C>A",
"hgvs_p": "p.Arg391Arg",
"transcript": "NM_001441170.1",
"protein_id": "NP_001428099.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 681,
"cds_start": 1171,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441170.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1171C>A",
"hgvs_p": "p.Arg391Arg",
"transcript": "ENST00000863261.1",
"protein_id": "ENSP00000533320.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 681,
"cds_start": 1171,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863261.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1171C>A",
"hgvs_p": "p.Arg391Arg",
"transcript": "ENST00000863264.1",
"protein_id": "ENSP00000533323.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 681,
"cds_start": 1171,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863264.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1171C>A",
"hgvs_p": "p.Arg391Arg",
"transcript": "ENST00000863265.1",
"protein_id": "ENSP00000533324.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 681,
"cds_start": 1171,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863265.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1171C>A",
"hgvs_p": "p.Arg391Arg",
"transcript": "ENST00000863267.1",
"protein_id": "ENSP00000533326.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 681,
"cds_start": 1171,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863267.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1171C>A",
"hgvs_p": "p.Arg391Arg",
"transcript": "ENST00000863273.1",
"protein_id": "ENSP00000533332.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 681,
"cds_start": 1171,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863273.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1171C>A",
"hgvs_p": "p.Arg391Arg",
"transcript": "ENST00000863276.1",
"protein_id": "ENSP00000533335.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 681,
"cds_start": 1171,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863276.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1171C>A",
"hgvs_p": "p.Arg391Arg",
"transcript": "ENST00000863279.1",
"protein_id": "ENSP00000533338.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 681,
"cds_start": 1171,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863279.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1171C>A",
"hgvs_p": "p.Arg391Arg",
"transcript": "ENST00000863283.1",
"protein_id": "ENSP00000533342.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 681,
"cds_start": 1171,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863283.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1171C>A",
"hgvs_p": "p.Arg391Arg",
"transcript": "ENST00000939559.1",
"protein_id": "ENSP00000609618.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 681,
"cds_start": 1171,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939559.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1171C>A",
"hgvs_p": "p.Arg391Arg",
"transcript": "ENST00000939560.1",
"protein_id": "ENSP00000609619.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 681,
"cds_start": 1171,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939560.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1171C>A",
"hgvs_p": "p.Arg391Arg",
"transcript": "ENST00000939561.1",
"protein_id": "ENSP00000609620.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 681,
"cds_start": 1171,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939561.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHF21A",
"gene_hgnc_id": 24156,
"hgvs_c": "c.1168C>A",
"hgvs_p": "p.Arg390Arg",
"transcript": "NM_001101802.3",
"protein_id": "NP_001095272.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 680,
"cds_start": 1168,
"cds_end": null,
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}
],
"message": null
}