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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: 19-8302605-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=8302605&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 8302605,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_016579.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "c.707C>T",
"hgvs_p": "p.Ala236Val",
"transcript": "NM_016579.4",
"protein_id": "NP_057663.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 282,
"cds_start": 707,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000301458.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016579.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "c.707C>T",
"hgvs_p": "p.Ala236Val",
"transcript": "ENST00000301458.10",
"protein_id": "ENSP00000301458.4",
"transcript_support_level": 1,
"aa_start": 236,
"aa_end": null,
"aa_length": 282,
"cds_start": 707,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016579.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301458.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "n.*995C>T",
"hgvs_p": null,
"transcript": "ENST00000596002.5",
"protein_id": "ENSP00000471773.1",
"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": "ENST00000596002.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "n.*995C>T",
"hgvs_p": null,
"transcript": "ENST00000596002.5",
"protein_id": "ENSP00000471773.1",
"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": "ENST00000596002.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "c.1019C>T",
"hgvs_p": "p.Ala340Val",
"transcript": "ENST00000963189.1",
"protein_id": "ENSP00000633248.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 386,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963189.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Ala251Val",
"transcript": "ENST00000932616.1",
"protein_id": "ENSP00000602675.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 297,
"cds_start": 752,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932616.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "c.731C>T",
"hgvs_p": "p.Ala244Val",
"transcript": "ENST00000874639.1",
"protein_id": "ENSP00000544698.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 290,
"cds_start": 731,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874639.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Ala194Val",
"transcript": "NM_001165895.2",
"protein_id": "NP_001159367.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 240,
"cds_start": 581,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001165895.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Ala194Val",
"transcript": "ENST00000537716.6",
"protein_id": "ENSP00000437697.1",
"transcript_support_level": 2,
"aa_start": 194,
"aa_end": null,
"aa_length": 240,
"cds_start": 581,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537716.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "c.575C>T",
"hgvs_p": "p.Ala192Val",
"transcript": "ENST00000874640.1",
"protein_id": "ENSP00000544699.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 238,
"cds_start": 575,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874640.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Ala191Val",
"transcript": "ENST00000874638.1",
"protein_id": "ENSP00000544697.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 237,
"cds_start": 572,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874638.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "c.473C>T",
"hgvs_p": "p.Ala158Val",
"transcript": "ENST00000932617.1",
"protein_id": "ENSP00000602676.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 204,
"cds_start": 473,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932617.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "c.449C>T",
"hgvs_p": "p.Ala150Val",
"transcript": "ENST00000932621.1",
"protein_id": "ENSP00000602680.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 196,
"cds_start": 449,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932621.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "c.446C>T",
"hgvs_p": "p.Ala149Val",
"transcript": "ENST00000932620.1",
"protein_id": "ENSP00000602679.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 195,
"cds_start": 446,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932620.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "c.347C>T",
"hgvs_p": "p.Ala116Val",
"transcript": "ENST00000874637.1",
"protein_id": "ENSP00000544696.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 162,
"cds_start": 347,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874637.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Ala48Val",
"transcript": "ENST00000932618.1",
"protein_id": "ENSP00000602677.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 94,
"cds_start": 143,
"cds_end": null,
"cds_length": 285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932618.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "c.645-31C>T",
"hgvs_p": null,
"transcript": "ENST00000932619.1",
"protein_id": "ENSP00000602678.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": null,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932619.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "n.*307C>T",
"hgvs_p": null,
"transcript": "ENST00000599573.1",
"protein_id": "ENSP00000471551.1",
"transcript_support_level": 2,
"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": "ENST00000599573.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"hgvs_c": "n.*307C>T",
"hgvs_p": null,
"transcript": "ENST00000599573.1",
"protein_id": "ENSP00000471551.1",
"transcript_support_level": 2,
"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": "ENST00000599573.1"
}
],
"gene_symbol": "CD320",
"gene_hgnc_id": 16692,
"dbsnp": "rs776727775",
"frequency_reference_population": 0.000007528317,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000752832,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04757034778594971,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.00800000037997961,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.187,
"revel_prediction": "Benign",
"alphamissense_score": 0.1009,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.244,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.0000500796093579837,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_016579.4",
"gene_symbol": "CD320",
"hgnc_id": 16692,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.707C>T",
"hgvs_p": "p.Ala236Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}