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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: 2-63045072-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=63045072&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 63045072,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_015252.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.3284A>G",
"hgvs_p": "p.Gln1095Arg",
"transcript": "NM_001142616.3",
"protein_id": "NP_001136088.1",
"transcript_support_level": null,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1160,
"cds_start": 3284,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000431489.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142616.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.3284A>G",
"hgvs_p": "p.Gln1095Arg",
"transcript": "ENST00000431489.6",
"protein_id": "ENSP00000403783.1",
"transcript_support_level": 1,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1160,
"cds_start": 3284,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001142616.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431489.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.3497A>G",
"hgvs_p": "p.Gln1166Arg",
"transcript": "ENST00000263991.9",
"protein_id": "ENSP00000263991.5",
"transcript_support_level": 1,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3497,
"cds_end": null,
"cds_length": 3696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263991.9"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.3392A>G",
"hgvs_p": "p.Gln1131Arg",
"transcript": "ENST00000405289.5",
"protein_id": "ENSP00000385524.1",
"transcript_support_level": 1,
"aa_start": 1131,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3392,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405289.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1-AS1",
"gene_hgnc_id": 55766,
"hgvs_c": "n.919T>C",
"hgvs_p": null,
"transcript": "ENST00000429952.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000429952.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "n.900A>G",
"hgvs_p": null,
"transcript": "ENST00000496857.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000496857.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.3497A>G",
"hgvs_p": "p.Gln1166Arg",
"transcript": "NM_001354212.1",
"protein_id": "NP_001341141.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3497,
"cds_end": null,
"cds_length": 3696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354212.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.3497A>G",
"hgvs_p": "p.Gln1166Arg",
"transcript": "NM_001354213.1",
"protein_id": "NP_001341142.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3497,
"cds_end": null,
"cds_length": 3696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354213.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.3497A>G",
"hgvs_p": "p.Gln1166Arg",
"transcript": "NM_001354214.1",
"protein_id": "NP_001341143.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3497,
"cds_end": null,
"cds_length": 3696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354214.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.3497A>G",
"hgvs_p": "p.Gln1166Arg",
"transcript": "NM_015252.5",
"protein_id": "NP_056067.2",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3497,
"cds_end": null,
"cds_length": 3696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015252.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.3497A>G",
"hgvs_p": "p.Gln1166Arg",
"transcript": "ENST00000861125.1",
"protein_id": "ENSP00000531184.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3497,
"cds_end": null,
"cds_length": 3696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861125.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.3494A>G",
"hgvs_p": "p.Gln1165Arg",
"transcript": "NM_001354215.1",
"protein_id": "NP_001341144.1",
"transcript_support_level": null,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1230,
"cds_start": 3494,
"cds_end": null,
"cds_length": 3693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354215.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.3494A>G",
"hgvs_p": "p.Gln1165Arg",
"transcript": "NM_001354216.2",
"protein_id": "NP_001341145.1",
"transcript_support_level": null,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1230,
"cds_start": 3494,
"cds_end": null,
"cds_length": 3693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354216.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.3392A>G",
"hgvs_p": "p.Gln1131Arg",
"transcript": "NM_001142614.2",
"protein_id": "NP_001136086.1",
"transcript_support_level": null,
"aa_start": 1131,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3392,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142614.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.3389A>G",
"hgvs_p": "p.Gln1130Arg",
"transcript": "NM_001354217.1",
"protein_id": "NP_001341146.1",
"transcript_support_level": null,
"aa_start": 1130,
"aa_end": null,
"aa_length": 1195,
"cds_start": 3389,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354217.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.3284A>G",
"hgvs_p": "p.Gln1095Arg",
"transcript": "NM_001142615.3",
"protein_id": "NP_001136087.1",
"transcript_support_level": null,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1160,
"cds_start": 3284,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142615.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.3284A>G",
"hgvs_p": "p.Gln1095Arg",
"transcript": "NM_001354218.1",
"protein_id": "NP_001341147.1",
"transcript_support_level": null,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1160,
"cds_start": 3284,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354218.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.3284A>G",
"hgvs_p": "p.Gln1095Arg",
"transcript": "ENST00000405015.7",
"protein_id": "ENSP00000384143.3",
"transcript_support_level": 2,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1160,
"cds_start": 3284,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405015.7"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.3284A>G",
"hgvs_p": "p.Gln1095Arg",
"transcript": "ENST00000861116.1",
"protein_id": "ENSP00000531175.1",
"transcript_support_level": null,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1160,
"cds_start": 3284,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861116.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.3284A>G",
"hgvs_p": "p.Gln1095Arg",
"transcript": "ENST00000861124.1",
"protein_id": "ENSP00000531183.1",
"transcript_support_level": null,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1160,
"cds_start": 3284,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861124.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.3281A>G",
"hgvs_p": "p.Gln1094Arg",
"transcript": "NM_001354219.2",
"protein_id": "NP_001341148.1",
"transcript_support_level": null,
"aa_start": 1094,
"aa_end": null,
"aa_length": 1159,
"cds_start": 3281,
"cds_end": null,
"cds_length": 3480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354219.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"hgvs_c": "c.3281A>G",
"hgvs_p": "p.Gln1094Arg",
"transcript": "NM_001354220.1",
"protein_id": "NP_001341149.1",
"transcript_support_level": null,
"aa_start": 1094,
"aa_end": null,
"aa_length": 1159,
"cds_start": 3281,
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"hgvs_p": null,
"transcript": "ENST00000766983.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000766983.1"
}
],
"gene_symbol": "EHBP1",
"gene_hgnc_id": 29144,
"dbsnp": null,
"frequency_reference_population": 0.0000014216379,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000142164,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.438482403755188,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.363,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6027,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.797,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015252.5",
"gene_symbol": "EHBP1",
"hgnc_id": 29144,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3497A>G",
"hgvs_p": "p.Gln1166Arg"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000429952.5",
"gene_symbol": "EHBP1-AS1",
"hgnc_id": 55766,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.919T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}