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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: 20-64074009-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=64074009&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 64074009,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005873.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS19",
"gene_hgnc_id": 13735,
"hgvs_c": "c.498C>A",
"hgvs_p": "p.Asn166Lys",
"transcript": "NM_005873.3",
"protein_id": "NP_005864.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 217,
"cds_start": 498,
"cds_end": null,
"cds_length": 654,
"cdna_start": 791,
"cdna_end": null,
"cdna_length": 1619,
"mane_select": "ENST00000395042.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005873.3"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS19",
"gene_hgnc_id": 13735,
"hgvs_c": "c.498C>A",
"hgvs_p": "p.Asn166Lys",
"transcript": "ENST00000395042.2",
"protein_id": "ENSP00000378483.1",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 217,
"cds_start": 498,
"cds_end": null,
"cds_length": 654,
"cdna_start": 791,
"cdna_end": null,
"cdna_length": 1619,
"mane_select": "NM_005873.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395042.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS19",
"gene_hgnc_id": 13735,
"hgvs_c": "c.498C>A",
"hgvs_p": "p.Asn166Lys",
"transcript": "ENST00000332298.9",
"protein_id": "ENSP00000333194.5",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 217,
"cds_start": 498,
"cds_end": null,
"cds_length": 654,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 1510,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000332298.9"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS19",
"gene_hgnc_id": 13735,
"hgvs_c": "c.540C>A",
"hgvs_p": "p.Asn180Lys",
"transcript": "ENST00000910389.1",
"protein_id": "ENSP00000580448.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 231,
"cds_start": 540,
"cds_end": null,
"cds_length": 696,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 1515,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910389.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS19",
"gene_hgnc_id": 13735,
"hgvs_c": "c.540C>A",
"hgvs_p": "p.Asn180Lys",
"transcript": "ENST00000910392.1",
"protein_id": "ENSP00000580451.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 231,
"cds_start": 540,
"cds_end": null,
"cds_length": 696,
"cdna_start": 828,
"cdna_end": null,
"cdna_length": 1656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910392.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS19",
"gene_hgnc_id": 13735,
"hgvs_c": "c.498C>A",
"hgvs_p": "p.Asn166Lys",
"transcript": "NM_001039467.2",
"protein_id": "NP_001034556.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 217,
"cds_start": 498,
"cds_end": null,
"cds_length": 654,
"cdna_start": 658,
"cdna_end": null,
"cdna_length": 1486,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039467.2"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS19",
"gene_hgnc_id": 13735,
"hgvs_c": "c.498C>A",
"hgvs_p": "p.Asn166Lys",
"transcript": "ENST00000910390.1",
"protein_id": "ENSP00000580449.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 217,
"cds_start": 498,
"cds_end": null,
"cds_length": 654,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 1677,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910390.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS19",
"gene_hgnc_id": 13735,
"hgvs_c": "c.498C>A",
"hgvs_p": "p.Asn166Lys",
"transcript": "ENST00000910391.1",
"protein_id": "ENSP00000580450.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 217,
"cds_start": 498,
"cds_end": null,
"cds_length": 654,
"cdna_start": 3254,
"cdna_end": null,
"cdna_length": 4082,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910391.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS19",
"gene_hgnc_id": 13735,
"hgvs_c": "c.498C>A",
"hgvs_p": "p.Asn166Lys",
"transcript": "ENST00000910393.1",
"protein_id": "ENSP00000580452.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 217,
"cds_start": 498,
"cds_end": null,
"cds_length": 654,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 1461,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910393.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS19",
"gene_hgnc_id": 13735,
"hgvs_c": "c.498C>A",
"hgvs_p": "p.Asn166Lys",
"transcript": "ENST00000910394.1",
"protein_id": "ENSP00000580453.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 217,
"cds_start": 498,
"cds_end": null,
"cds_length": 654,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 1563,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910394.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS19",
"gene_hgnc_id": 13735,
"hgvs_c": "c.498C>A",
"hgvs_p": "p.Asn166Lys",
"transcript": "ENST00000910395.1",
"protein_id": "ENSP00000580454.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 217,
"cds_start": 498,
"cds_end": null,
"cds_length": 654,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 1547,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910395.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS19",
"gene_hgnc_id": 13735,
"hgvs_c": "c.498C>A",
"hgvs_p": "p.Asn166Lys",
"transcript": "ENST00000936747.1",
"protein_id": "ENSP00000606806.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 217,
"cds_start": 498,
"cds_end": null,
"cds_length": 654,
"cdna_start": 2776,
"cdna_end": null,
"cdna_length": 3599,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936747.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS19",
"gene_hgnc_id": 13735,
"hgvs_c": "c.498C>A",
"hgvs_p": "p.Asn166Lys",
"transcript": "ENST00000944526.1",
"protein_id": "ENSP00000614585.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 217,
"cds_start": 498,
"cds_end": null,
"cds_length": 654,
"cdna_start": 689,
"cdna_end": null,
"cdna_length": 1514,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944526.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS19",
"gene_hgnc_id": 13735,
"hgvs_c": "c.585C>A",
"hgvs_p": "p.Asn195Lys",
"transcript": "XM_011528484.3",
"protein_id": "XP_011526786.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 246,
"cds_start": 585,
"cds_end": null,
"cds_length": 741,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 1447,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528484.3"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS19",
"gene_hgnc_id": 13735,
"hgvs_c": "c.498C>A",
"hgvs_p": "p.Asn166Lys",
"transcript": "XM_011528485.3",
"protein_id": "XP_011526787.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 217,
"cds_start": 498,
"cds_end": null,
"cds_length": 654,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 1762,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528485.3"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS19",
"gene_hgnc_id": 13735,
"hgvs_c": "c.498C>A",
"hgvs_p": "p.Asn166Lys",
"transcript": "XM_047439824.1",
"protein_id": "XP_047295780.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 217,
"cds_start": 498,
"cds_end": null,
"cds_length": 654,
"cdna_start": 908,
"cdna_end": null,
"cdna_length": 1736,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439824.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS19",
"gene_hgnc_id": 13735,
"hgvs_c": "c.432C>A",
"hgvs_p": "p.Asn144Lys",
"transcript": "XM_005260182.4",
"protein_id": "XP_005260239.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 195,
"cds_start": 432,
"cds_end": null,
"cds_length": 588,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 1521,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260182.4"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RGS19",
"gene_hgnc_id": 13735,
"hgvs_c": "c.432C>A",
"hgvs_p": "p.Asn144Lys",
"transcript": "XM_005260183.3",
"protein_id": "XP_005260240.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 195,
"cds_start": 432,
"cds_end": null,
"cds_length": 588,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 1388,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260183.3"
}
],
"gene_symbol": "RGS19",
"gene_hgnc_id": 13735,
"dbsnp": "rs367950896",
"frequency_reference_population": 0.0000013685807,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136858,
"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": 0.7525763511657715,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.203,
"revel_prediction": "Benign",
"alphamissense_score": 0.9238,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.831,
"phylop100way_prediction": "Uncertain_significance",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005873.3",
"gene_symbol": "RGS19",
"hgnc_id": 13735,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.498C>A",
"hgvs_p": "p.Asn166Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}