← Back to variant description
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: 1-156913423-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156913423&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 156913423,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000292357.8",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.2544C>A",
"hgvs_p": "p.Asn848Lys",
"transcript": "NM_001080471.3",
"protein_id": "NP_001073940.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1037,
"cds_start": 2544,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 2673,
"cdna_end": null,
"cdna_length": 4874,
"mane_select": "ENST00000292357.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.2544C>A",
"hgvs_p": "p.Asn848Lys",
"transcript": "ENST00000292357.8",
"protein_id": "ENSP00000292357.7",
"transcript_support_level": 5,
"aa_start": 848,
"aa_end": null,
"aa_length": 1037,
"cds_start": 2544,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 2673,
"cdna_end": null,
"cdna_length": 4874,
"mane_select": "NM_001080471.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.2544C>A",
"hgvs_p": "p.Asn848Lys",
"transcript": "ENST00000338302.7",
"protein_id": "ENSP00000344465.3",
"transcript_support_level": 5,
"aa_start": 848,
"aa_end": null,
"aa_length": 1037,
"cds_start": 2544,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 2769,
"cdna_end": null,
"cdna_length": 4970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.2352C>A",
"hgvs_p": "p.Asn784Lys",
"transcript": "NM_001353682.2",
"protein_id": "NP_001340611.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 973,
"cds_start": 2352,
"cds_end": null,
"cds_length": 2922,
"cdna_start": 2819,
"cdna_end": null,
"cdna_length": 5020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.2352C>A",
"hgvs_p": "p.Asn784Lys",
"transcript": "NM_001353683.2",
"protein_id": "NP_001340612.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 973,
"cds_start": 2352,
"cds_end": null,
"cds_length": 2922,
"cdna_start": 2978,
"cdna_end": null,
"cdna_length": 5179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.2808C>A",
"hgvs_p": "p.Asn936Lys",
"transcript": "XM_017001234.3",
"protein_id": "XP_016856723.1",
"transcript_support_level": null,
"aa_start": 936,
"aa_end": null,
"aa_length": 1125,
"cds_start": 2808,
"cds_end": null,
"cds_length": 3378,
"cdna_start": 3913,
"cdna_end": null,
"cdna_length": 6114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.2676C>A",
"hgvs_p": "p.Asn892Lys",
"transcript": "XM_017001235.3",
"protein_id": "XP_016856724.1",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 1081,
"cds_start": 2676,
"cds_end": null,
"cds_length": 3246,
"cdna_start": 3783,
"cdna_end": null,
"cdna_length": 5984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.2544C>A",
"hgvs_p": "p.Asn848Lys",
"transcript": "XM_005245141.4",
"protein_id": "XP_005245198.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1037,
"cds_start": 2544,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 2832,
"cdna_end": null,
"cdna_length": 5033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.2544C>A",
"hgvs_p": "p.Asn848Lys",
"transcript": "XM_011509510.3",
"protein_id": "XP_011507812.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1037,
"cds_start": 2544,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 2771,
"cdna_end": null,
"cdna_length": 4972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.2544C>A",
"hgvs_p": "p.Asn848Lys",
"transcript": "XM_017001236.2",
"protein_id": "XP_016856725.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1037,
"cds_start": 2544,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 2734,
"cdna_end": null,
"cdna_length": 4935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.2544C>A",
"hgvs_p": "p.Asn848Lys",
"transcript": "XM_047419722.1",
"protein_id": "XP_047275678.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 1037,
"cds_start": 2544,
"cds_end": null,
"cds_length": 3114,
"cdna_start": 2828,
"cdna_end": null,
"cdna_length": 5029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.2439C>A",
"hgvs_p": "p.Asn813Lys",
"transcript": "XM_011509511.3",
"protein_id": "XP_011507813.1",
"transcript_support_level": null,
"aa_start": 813,
"aa_end": null,
"aa_length": 1002,
"cds_start": 2439,
"cds_end": null,
"cds_length": 3009,
"cdna_start": 2727,
"cdna_end": null,
"cdna_length": 4928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.2352C>A",
"hgvs_p": "p.Asn784Lys",
"transcript": "XM_017001239.2",
"protein_id": "XP_016856728.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 973,
"cds_start": 2352,
"cds_end": null,
"cds_length": 2922,
"cdna_start": 2728,
"cdna_end": null,
"cdna_length": 4929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.2352C>A",
"hgvs_p": "p.Asn784Lys",
"transcript": "XM_047419737.1",
"protein_id": "XP_047275693.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 973,
"cds_start": 2352,
"cds_end": null,
"cds_length": 2922,
"cdna_start": 2887,
"cdna_end": null,
"cdna_length": 5088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.2160C>A",
"hgvs_p": "p.Asn720Lys",
"transcript": "XM_017001240.1",
"protein_id": "XP_016856729.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 909,
"cds_start": 2160,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 2317,
"cdna_end": null,
"cdna_length": 4518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.2160C>A",
"hgvs_p": "p.Asn720Lys",
"transcript": "XM_017001241.1",
"protein_id": "XP_016856730.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 909,
"cds_start": 2160,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 2465,
"cdna_end": null,
"cdna_length": 4666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "c.2160C>A",
"hgvs_p": "p.Asn720Lys",
"transcript": "XM_017001242.2",
"protein_id": "XP_016856731.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 909,
"cds_start": 2160,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 2348,
"cdna_end": null,
"cdna_length": 4549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "n.2272C>A",
"hgvs_p": null,
"transcript": "ENST00000469390.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"hgvs_c": "n.-109C>A",
"hgvs_p": null,
"transcript": "ENST00000465101.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PEAR1",
"gene_hgnc_id": 33631,
"dbsnp": "rs822442",
"frequency_reference_population": 0.12514453,
"hom_count_reference_population": 14677,
"allele_count_reference_population": 201961,
"gnomad_exomes_af": 0.121845,
"gnomad_genomes_af": 0.156826,
"gnomad_exomes_ac": 178088,
"gnomad_genomes_ac": 23873,
"gnomad_exomes_homalt": 12595,
"gnomad_genomes_homalt": 2082,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0037869513034820557,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.118,
"revel_prediction": "Benign",
"alphamissense_score": 0.1005,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.632,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000292357.8",
"gene_symbol": "PEAR1",
"hgnc_id": 33631,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2544C>A",
"hgvs_p": "p.Asn848Lys"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}