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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: 17-4955082-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=4955082&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 4955082,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001374524.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO3",
"gene_hgnc_id": 3354,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.Asn151Ile",
"transcript": "NM_053013.4",
"protein_id": "NP_443739.3",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 434,
"cds_start": 452,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000519602.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_053013.4"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO3",
"gene_hgnc_id": 3354,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.Asn151Ile",
"transcript": "ENST00000519602.6",
"protein_id": "ENSP00000430055.2",
"transcript_support_level": 2,
"aa_start": 151,
"aa_end": null,
"aa_length": 434,
"cds_start": 452,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_053013.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519602.6"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO3",
"gene_hgnc_id": 3354,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.Asn151Ile",
"transcript": "ENST00000518175.1",
"protein_id": "ENSP00000431087.1",
"transcript_support_level": 1,
"aa_start": 151,
"aa_end": null,
"aa_length": 434,
"cds_start": 452,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518175.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO3",
"gene_hgnc_id": 3354,
"hgvs_c": "n.*398A>T",
"hgvs_p": null,
"transcript": "ENST00000521659.5",
"protein_id": "ENSP00000430554.1",
"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": "ENST00000521659.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO3",
"gene_hgnc_id": 3354,
"hgvs_c": "n.*398A>T",
"hgvs_p": null,
"transcript": "ENST00000521659.5",
"protein_id": "ENSP00000430554.1",
"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": "ENST00000521659.5"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO3",
"gene_hgnc_id": 3354,
"hgvs_c": "c.479A>T",
"hgvs_p": "p.Asn160Ile",
"transcript": "NM_001374524.1",
"protein_id": "NP_001361453.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 443,
"cds_start": 479,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374524.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO3",
"gene_hgnc_id": 3354,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.Asn151Ile",
"transcript": "NM_001374523.1",
"protein_id": "NP_001361452.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 434,
"cds_start": 452,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374523.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO3",
"gene_hgnc_id": 3354,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.Asn151Ile",
"transcript": "NM_001976.5",
"protein_id": "NP_001967.3",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 434,
"cds_start": 452,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001976.5"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO3",
"gene_hgnc_id": 3354,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.Asn151Ile",
"transcript": "ENST00000323997.10",
"protein_id": "ENSP00000324105.6",
"transcript_support_level": 5,
"aa_start": 151,
"aa_end": null,
"aa_length": 434,
"cds_start": 452,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323997.10"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO3",
"gene_hgnc_id": 3354,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.Asn151Ile",
"transcript": "ENST00000896245.1",
"protein_id": "ENSP00000566304.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 434,
"cds_start": 452,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896245.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO3",
"gene_hgnc_id": 3354,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.Asn151Ile",
"transcript": "ENST00000896246.1",
"protein_id": "ENSP00000566305.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 434,
"cds_start": 452,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896246.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO3",
"gene_hgnc_id": 3354,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.Asn151Ile",
"transcript": "ENST00000896247.1",
"protein_id": "ENSP00000566306.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 434,
"cds_start": 452,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896247.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO3",
"gene_hgnc_id": 3354,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.Asn151Ile",
"transcript": "ENST00000896248.1",
"protein_id": "ENSP00000566307.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 434,
"cds_start": 452,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896248.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO3",
"gene_hgnc_id": 3354,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.Asn151Ile",
"transcript": "ENST00000896249.1",
"protein_id": "ENSP00000566308.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 434,
"cds_start": 452,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896249.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO3",
"gene_hgnc_id": 3354,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.Asn151Ile",
"transcript": "ENST00000896251.1",
"protein_id": "ENSP00000566310.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 434,
"cds_start": 452,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896251.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO3",
"gene_hgnc_id": 3354,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.Asn151Ile",
"transcript": "ENST00000896253.1",
"protein_id": "ENSP00000566312.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 434,
"cds_start": 452,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896253.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO3",
"gene_hgnc_id": 3354,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.Asn151Ile",
"transcript": "ENST00000927531.1",
"protein_id": "ENSP00000597590.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 434,
"cds_start": 452,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927531.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO3",
"gene_hgnc_id": 3354,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.Asn151Ile",
"transcript": "ENST00000927532.1",
"protein_id": "ENSP00000597591.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 434,
"cds_start": 452,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927532.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO3",
"gene_hgnc_id": 3354,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.Asn151Ile",
"transcript": "ENST00000927533.1",
"protein_id": "ENSP00000597592.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 434,
"cds_start": 452,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927533.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO3",
"gene_hgnc_id": 3354,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.Asn151Ile",
"transcript": "ENST00000969664.1",
"protein_id": "ENSP00000639723.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 434,
"cds_start": 452,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969664.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO3",
"gene_hgnc_id": 3354,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.Asn151Ile",
"transcript": "ENST00000969665.1",
"protein_id": "ENSP00000639724.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 434,
"cds_start": 452,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969665.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENO3",
"gene_hgnc_id": 3354,
"hgvs_c": "c.452A>T",
"hgvs_p": "p.Asn151Ile",
"transcript": "ENST00000969667.1",
"protein_id": "ENSP00000639726.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 434,
"cds_start": 452,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969667.1"
},
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"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENO3",
"gene_hgnc_id": 3354,
"hgvs_c": "c.219+1237A>T",
"hgvs_p": null,
"transcript": "ENST00000927534.1",
"protein_id": "ENSP00000597593.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 115,
"cds_start": null,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927534.1"
}
],
"gene_symbol": "ENO3",
"gene_hgnc_id": 3354,
"dbsnp": "rs560867570",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657566,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.967884361743927,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.63,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9789,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.325,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001374524.1",
"gene_symbol": "ENO3",
"hgnc_id": 3354,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.479A>T",
"hgvs_p": "p.Asn160Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}