← Back to variant description
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: 9-133467937-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=133467937&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 133467937,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001242369.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.337A>G",
"hgvs_p": "p.Ile113Val",
"transcript": "NM_017586.5",
"protein_id": "NP_060056.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 172,
"cds_start": 337,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000316948.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017586.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.337A>G",
"hgvs_p": "p.Ile113Val",
"transcript": "ENST00000316948.9",
"protein_id": "ENSP00000317121.4",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 172,
"cds_start": 337,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017586.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316948.9"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.337A>G",
"hgvs_p": "p.Ile113Val",
"transcript": "NM_001242369.2",
"protein_id": "NP_001229298.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 233,
"cds_start": 337,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242369.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.337A>G",
"hgvs_p": "p.Ile113Val",
"transcript": "ENST00000540581.5",
"protein_id": "ENSP00000440832.1",
"transcript_support_level": 2,
"aa_start": 113,
"aa_end": null,
"aa_length": 233,
"cds_start": 337,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540581.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.211A>G",
"hgvs_p": "p.Ile71Val",
"transcript": "NM_001242370.2",
"protein_id": "NP_001229299.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 191,
"cds_start": 211,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242370.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.211A>G",
"hgvs_p": "p.Ile71Val",
"transcript": "ENST00000542192.5",
"protein_id": "ENSP00000444328.1",
"transcript_support_level": 2,
"aa_start": 71,
"aa_end": null,
"aa_length": 191,
"cds_start": 211,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542192.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.211A>G",
"hgvs_p": "p.Ile71Val",
"transcript": "NM_001135775.4",
"protein_id": "NP_001129247.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 130,
"cds_start": 211,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135775.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.211A>G",
"hgvs_p": "p.Ile71Val",
"transcript": "ENST00000291722.11",
"protein_id": "ENSP00000291722.7",
"transcript_support_level": 2,
"aa_start": 71,
"aa_end": null,
"aa_length": 130,
"cds_start": 211,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000291722.11"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.211A>G",
"hgvs_p": "p.Ile71Val",
"transcript": "ENST00000962938.1",
"protein_id": "ENSP00000632997.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 121,
"cds_start": 211,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962938.1"
},
{
"aa_ref": "I",
"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": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.253A>G",
"hgvs_p": "p.Ile85Val",
"transcript": "ENST00000444798.1",
"protein_id": "ENSP00000414495.1",
"transcript_support_level": 5,
"aa_start": 85,
"aa_end": null,
"aa_length": 113,
"cds_start": 253,
"cds_end": null,
"cds_length": 344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444798.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.253A>G",
"hgvs_p": "p.Ile85Val",
"transcript": "XM_011518181.3",
"protein_id": "XP_011516483.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 205,
"cds_start": 253,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518181.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Ile50Val",
"transcript": "XM_024447398.2",
"protein_id": "XP_024303166.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 170,
"cds_start": 148,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447398.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.127A>G",
"hgvs_p": "p.Ile43Val",
"transcript": "XM_011518184.2",
"protein_id": "XP_011516486.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 163,
"cds_start": 127,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518184.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.253A>G",
"hgvs_p": "p.Ile85Val",
"transcript": "XM_011518185.3",
"protein_id": "XP_011516487.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 144,
"cds_start": 253,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518185.3"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "c.321-626A>G",
"hgvs_p": null,
"transcript": "ENST00000877841.1",
"protein_id": "ENSP00000547900.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": null,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877841.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"hgvs_c": "n.541A>G",
"hgvs_p": null,
"transcript": "ENST00000474734.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000474734.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "LOC124902295",
"gene_hgnc_id": null,
"hgvs_c": "n.402T>C",
"hgvs_p": null,
"transcript": "XR_007061831.1",
"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": "pseudogene",
"feature": "XR_007061831.1"
}
],
"gene_symbol": "CACFD1",
"gene_hgnc_id": 1365,
"dbsnp": "rs587770123",
"frequency_reference_population": 0.000013638218,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.0000143751,
"gnomad_genomes_af": 0.0000065678,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.027788013219833374,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.031,
"revel_prediction": "Benign",
"alphamissense_score": 0.0524,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.245,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001242369.2",
"gene_symbol": "CACFD1",
"hgnc_id": 1365,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.337A>G",
"hgvs_p": "p.Ile113Val"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XR_007061831.1",
"gene_symbol": "LOC124902295",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.402T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}