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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: 11-83012030-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=83012030&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 83012030,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000527633.6",
"consequences": [
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.-8-14706A>G",
"hgvs_p": null,
"transcript": "NM_001286060.2",
"protein_id": "NP_001272989.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 203,
"cds_start": -4,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9859,
"mane_select": "ENST00000527633.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.-8-14706A>G",
"hgvs_p": null,
"transcript": "ENST00000527633.6",
"protein_id": "ENSP00000435089.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 203,
"cds_start": -4,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9859,
"mane_select": "NM_001286060.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.-8-14706A>G",
"hgvs_p": null,
"transcript": "ENST00000533486.5",
"protein_id": "ENSP00000435189.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 203,
"cds_start": -4,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.-8-14706A>G",
"hgvs_p": null,
"transcript": "ENST00000534141.5",
"protein_id": "ENSP00000434974.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 164,
"cds_start": -4,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.-8-14706A>G",
"hgvs_p": null,
"transcript": "NM_001286059.2",
"protein_id": "NP_001272988.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 203,
"cds_start": -4,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.-8-14706A>G",
"hgvs_p": null,
"transcript": "NM_001286061.1",
"protein_id": "NP_001272990.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 203,
"cds_start": -4,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.-8-14706A>G",
"hgvs_p": null,
"transcript": "NM_014488.5",
"protein_id": "NP_055303.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 203,
"cds_start": -4,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.-8-14706A>G",
"hgvs_p": null,
"transcript": "ENST00000260056.6",
"protein_id": "ENSP00000260056.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 203,
"cds_start": -4,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.-8-14706A>G",
"hgvs_p": null,
"transcript": "ENST00000612684.4",
"protein_id": "ENSP00000478702.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 203,
"cds_start": -4,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.-8-14706A>G",
"hgvs_p": null,
"transcript": "ENST00000531021.5",
"protein_id": "ENSP00000434953.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": -4,
"cds_end": null,
"cds_length": 505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.-8-14706A>G",
"hgvs_p": null,
"transcript": "ENST00000526205.5",
"protein_id": "ENSP00000432336.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 113,
"cds_start": -4,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.-8-14706A>G",
"hgvs_p": null,
"transcript": "ENST00000534103.5",
"protein_id": "ENSP00000435542.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 99,
"cds_start": -4,
"cds_end": null,
"cds_length": 300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.-130-14706A>G",
"hgvs_p": null,
"transcript": "ENST00000524635.1",
"protein_id": "ENSP00000436587.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 74,
"cds_start": -4,
"cds_end": null,
"cds_length": 227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.-8-14706A>G",
"hgvs_p": null,
"transcript": "ENST00000533276.6",
"protein_id": "ENSP00000434528.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.-8-14706A>G",
"hgvs_p": null,
"transcript": "ENST00000528379.1",
"protein_id": "ENSP00000434106.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 54,
"cds_start": -4,
"cds_end": null,
"cds_length": 167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"hgvs_c": "c.-8-14706A>G",
"hgvs_p": null,
"transcript": "ENST00000530224.5",
"protein_id": "ENSP00000436282.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 36,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000254698",
"gene_hgnc_id": null,
"hgvs_c": "n.372+26714A>G",
"hgvs_p": null,
"transcript": "ENST00000527550.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RAB30",
"gene_hgnc_id": 9770,
"dbsnp": "rs11233413",
"frequency_reference_population": 0.270676,
"hom_count_reference_population": 6007,
"allele_count_reference_population": 41146,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.270676,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 41146,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 6007,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6700000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.491,
"phylop100way_prediction": "Benign",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000527633.6",
"gene_symbol": "RAB30",
"hgnc_id": 9770,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-8-14706A>G",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000527550.1",
"gene_symbol": "ENSG00000254698",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.372+26714A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}