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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: 5-90840983-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=90840983&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 90840983,
"ref": "A",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_032119.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 78,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.17017A>G",
"hgvs_p": "p.Lys5673Glu",
"transcript": "NM_032119.4",
"protein_id": "NP_115495.3",
"transcript_support_level": null,
"aa_start": 5673,
"aa_end": null,
"aa_length": 6306,
"cds_start": 17017,
"cds_end": null,
"cds_length": 18921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000405460.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032119.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 78,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.17017A>G",
"hgvs_p": "p.Lys5673Glu",
"transcript": "ENST00000405460.9",
"protein_id": "ENSP00000384582.2",
"transcript_support_level": 1,
"aa_start": 5673,
"aa_end": null,
"aa_length": 6306,
"cds_start": 17017,
"cds_end": null,
"cds_length": 18921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032119.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405460.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.4284A>G",
"hgvs_p": null,
"transcript": "ENST00000638510.1",
"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": "retained_intron",
"feature": "ENST00000638510.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.5971A>G",
"hgvs_p": "p.Lys1991Glu",
"transcript": "ENST00000425867.3",
"protein_id": "ENSP00000392618.3",
"transcript_support_level": 5,
"aa_start": 1991,
"aa_end": null,
"aa_length": 2624,
"cds_start": 5971,
"cds_end": null,
"cds_length": 7875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425867.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 78,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.17038A>G",
"hgvs_p": "p.Lys5680Glu",
"transcript": "XM_017009963.3",
"protein_id": "XP_016865452.1",
"transcript_support_level": null,
"aa_start": 5680,
"aa_end": null,
"aa_length": 6313,
"cds_start": 17038,
"cds_end": null,
"cds_length": 18942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009963.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 78,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.17035A>G",
"hgvs_p": "p.Lys5679Glu",
"transcript": "XM_017009964.3",
"protein_id": "XP_016865453.1",
"transcript_support_level": null,
"aa_start": 5679,
"aa_end": null,
"aa_length": 6312,
"cds_start": 17035,
"cds_end": null,
"cds_length": 18939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009964.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 78,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.17035A>G",
"hgvs_p": "p.Lys5679Glu",
"transcript": "XM_017009965.2",
"protein_id": "XP_016865454.1",
"transcript_support_level": null,
"aa_start": 5679,
"aa_end": null,
"aa_length": 6312,
"cds_start": 17035,
"cds_end": null,
"cds_length": 18939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009965.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 78,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.17014A>G",
"hgvs_p": "p.Lys5672Glu",
"transcript": "XM_047417824.1",
"protein_id": "XP_047273780.1",
"transcript_support_level": null,
"aa_start": 5672,
"aa_end": null,
"aa_length": 6305,
"cds_start": 17014,
"cds_end": null,
"cds_length": 18918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417824.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.16957A>G",
"hgvs_p": "p.Lys5653Glu",
"transcript": "XM_017009966.3",
"protein_id": "XP_016865455.1",
"transcript_support_level": null,
"aa_start": 5653,
"aa_end": null,
"aa_length": 6286,
"cds_start": 16957,
"cds_end": null,
"cds_length": 18861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009966.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.16942A>G",
"hgvs_p": "p.Lys5648Glu",
"transcript": "XM_017009967.2",
"protein_id": "XP_016865456.1",
"transcript_support_level": null,
"aa_start": 5648,
"aa_end": null,
"aa_length": 6281,
"cds_start": 16942,
"cds_end": null,
"cds_length": 18846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009967.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 77,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.16858A>G",
"hgvs_p": "p.Lys5620Glu",
"transcript": "XM_017009968.3",
"protein_id": "XP_016865457.1",
"transcript_support_level": null,
"aa_start": 5620,
"aa_end": null,
"aa_length": 6253,
"cds_start": 16858,
"cds_end": null,
"cds_length": 18762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009968.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 78,
"exon_rank_end": null,
"exon_count": 88,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.17038A>G",
"hgvs_p": "p.Lys5680Glu",
"transcript": "XM_017009969.3",
"protein_id": "XP_016865458.1",
"transcript_support_level": null,
"aa_start": 5680,
"aa_end": null,
"aa_length": 6171,
"cds_start": 17038,
"cds_end": null,
"cds_length": 18516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009969.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.10156A>G",
"hgvs_p": "p.Lys3386Glu",
"transcript": "XM_017009972.2",
"protein_id": "XP_016865461.1",
"transcript_support_level": null,
"aa_start": 3386,
"aa_end": null,
"aa_length": 4019,
"cds_start": 10156,
"cds_end": null,
"cds_length": 12060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009972.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 48,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.10135A>G",
"hgvs_p": "p.Lys3379Glu",
"transcript": "XM_017009973.2",
"protein_id": "XP_016865462.1",
"transcript_support_level": null,
"aa_start": 3379,
"aa_end": null,
"aa_length": 4012,
"cds_start": 10135,
"cds_end": null,
"cds_length": 12039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009973.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.37A>G",
"hgvs_p": null,
"transcript": "ENST00000638990.1",
"protein_id": "ENSP00000492781.1",
"transcript_support_level": 5,
"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": "ENST00000638990.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.534A>G",
"hgvs_p": null,
"transcript": "ENST00000640061.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000640061.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.*649A>G",
"hgvs_p": null,
"transcript": "ENST00000640407.1",
"protein_id": "ENSP00000491425.1",
"transcript_support_level": 5,
"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": "ENST00000640407.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 78,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.17033A>G",
"hgvs_p": null,
"transcript": "NR_003149.2",
"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": "NR_003149.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.*649A>G",
"hgvs_p": null,
"transcript": "ENST00000640407.1",
"protein_id": "ENSP00000491425.1",
"transcript_support_level": 5,
"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": "ENST00000640407.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.266-144361A>G",
"hgvs_p": null,
"transcript": "ENST00000639431.1",
"protein_id": "ENSP00000491057.1",
"transcript_support_level": 5,
"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": "ENST00000639431.1"
}
],
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"dbsnp": "rs41303350",
"frequency_reference_population": 0.004240121,
"hom_count_reference_population": 18,
"allele_count_reference_population": 5898,
"gnomad_exomes_af": 0.00445317,
"gnomad_genomes_af": 0.00250771,
"gnomad_exomes_ac": 5516,
"gnomad_genomes_ac": 382,
"gnomad_exomes_homalt": 17,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.007271915674209595,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.127,
"revel_prediction": "Benign",
"alphamissense_score": 0.1398,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.002,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000711991379729213,
"dbscsnv_ada_prediction": "Benign",
"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,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_032119.4",
"gene_symbol": "ADGRV1",
"hgnc_id": 17416,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.17017A>G",
"hgvs_p": "p.Lys5673Glu"
}
],
"clinvar_disease": "ADGRV1-related disorder,Craniosynostosis syndrome,Usher syndrome type 2C,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:5",
"phenotype_combined": "not specified|not provided|Usher syndrome type 2C|ADGRV1-related disorder|Craniosynostosis syndrome",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}