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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: 6-30723957-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=30723957&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 30723957,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001293212.2",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB",
"gene_hgnc_id": 20778,
"hgvs_c": "c.895A>G",
"hgvs_p": "p.Met299Val",
"transcript": "NM_178014.4",
"protein_id": "NP_821133.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 444,
"cds_start": 895,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000327892.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178014.4"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB",
"gene_hgnc_id": 20778,
"hgvs_c": "c.895A>G",
"hgvs_p": "p.Met299Val",
"transcript": "ENST00000327892.13",
"protein_id": "ENSP00000339001.7",
"transcript_support_level": 1,
"aa_start": 299,
"aa_end": null,
"aa_length": 444,
"cds_start": 895,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_178014.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327892.13"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB",
"gene_hgnc_id": 20778,
"hgvs_c": "c.955A>G",
"hgvs_p": "p.Met319Val",
"transcript": "NM_001293212.2",
"protein_id": "NP_001280141.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 464,
"cds_start": 955,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293212.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB",
"gene_hgnc_id": 20778,
"hgvs_c": "c.841A>G",
"hgvs_p": "p.Met281Val",
"transcript": "ENST00000396389.5",
"protein_id": "ENSP00000379672.1",
"transcript_support_level": 5,
"aa_start": 281,
"aa_end": null,
"aa_length": 426,
"cds_start": 841,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396389.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB",
"gene_hgnc_id": 20778,
"hgvs_c": "c.784A>G",
"hgvs_p": "p.Met262Val",
"transcript": "ENST00000940307.1",
"protein_id": "ENSP00000610366.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 407,
"cds_start": 784,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940307.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB",
"gene_hgnc_id": 20778,
"hgvs_c": "c.763A>G",
"hgvs_p": "p.Met255Val",
"transcript": "NM_001293214.2",
"protein_id": "NP_001280143.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 400,
"cds_start": 763,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293214.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB",
"gene_hgnc_id": 20778,
"hgvs_c": "c.742A>G",
"hgvs_p": "p.Met248Val",
"transcript": "ENST00000940306.1",
"protein_id": "ENSP00000610365.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 393,
"cds_start": 742,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940306.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB",
"gene_hgnc_id": 20778,
"hgvs_c": "c.700A>G",
"hgvs_p": "p.Met234Val",
"transcript": "ENST00000940309.1",
"protein_id": "ENSP00000610368.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 379,
"cds_start": 700,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940309.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB",
"gene_hgnc_id": 20778,
"hgvs_c": "c.679A>G",
"hgvs_p": "p.Met227Val",
"transcript": "NM_001293215.2",
"protein_id": "NP_001280144.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 372,
"cds_start": 679,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293215.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB",
"gene_hgnc_id": 20778,
"hgvs_c": "c.679A>G",
"hgvs_p": "p.Met227Val",
"transcript": "NM_001293216.2",
"protein_id": "NP_001280145.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 372,
"cds_start": 679,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293216.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB",
"gene_hgnc_id": 20778,
"hgvs_c": "c.679A>G",
"hgvs_p": "p.Met227Val",
"transcript": "ENST00000330914.7",
"protein_id": "ENSP00000365578.2",
"transcript_support_level": 2,
"aa_start": 227,
"aa_end": null,
"aa_length": 372,
"cds_start": 679,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330914.7"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB",
"gene_hgnc_id": 20778,
"hgvs_c": "c.679A>G",
"hgvs_p": "p.Met227Val",
"transcript": "ENST00000396384.1",
"protein_id": "ENSP00000379668.1",
"transcript_support_level": 3,
"aa_start": 227,
"aa_end": null,
"aa_length": 372,
"cds_start": 679,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396384.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB",
"gene_hgnc_id": 20778,
"hgvs_c": "c.679A>G",
"hgvs_p": "p.Met227Val",
"transcript": "ENST00000681435.1",
"protein_id": "ENSP00000506665.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 372,
"cds_start": 679,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681435.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB",
"gene_hgnc_id": 20778,
"hgvs_c": "c.631A>G",
"hgvs_p": "p.Met211Val",
"transcript": "ENST00000940308.1",
"protein_id": "ENSP00000610367.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 356,
"cds_start": 631,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940308.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TUBB",
"gene_hgnc_id": 20778,
"hgvs_c": "c.370-81A>G",
"hgvs_p": null,
"transcript": "NM_001293213.2",
"protein_id": "NP_001280142.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 242,
"cds_start": null,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001293213.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB",
"gene_hgnc_id": 20778,
"hgvs_c": "n.1757A>G",
"hgvs_p": null,
"transcript": "ENST00000680530.1",
"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": "retained_intron",
"feature": "ENST00000680530.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB",
"gene_hgnc_id": 20778,
"hgvs_c": "n.1961A>G",
"hgvs_p": null,
"transcript": "ENST00000681421.1",
"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": "retained_intron",
"feature": "ENST00000681421.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB",
"gene_hgnc_id": 20778,
"hgvs_c": "n.451A>G",
"hgvs_p": null,
"transcript": "NR_120608.2",
"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_120608.2"
},
{
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000272540",
"gene_hgnc_id": null,
"hgvs_c": "n.-80T>C",
"hgvs_p": null,
"transcript": "ENST00000607476.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "ENST00000607476.1"
}
],
"gene_symbol": "TUBB",
"gene_hgnc_id": 20778,
"dbsnp": "rs587777355",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9658311605453491,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.874,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3966,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.39,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.118,
"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": 21,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM2,PM5,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 21,
"benign_score": 0,
"pathogenic_score": 21,
"criteria": [
"PS3",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001293212.2",
"gene_symbol": "TUBB",
"hgnc_id": 20778,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.955A>G",
"hgvs_p": "p.Met319Val"
},
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PS3",
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000607476.1",
"gene_symbol": "ENSG00000272540",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-80T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Complex cortical dysplasia with other brain malformations 6,Inborn genetic diseases,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:6",
"phenotype_combined": "Complex cortical dysplasia with other brain malformations 6|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}