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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: X-70146758-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=70146758&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 70146758,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001551.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGBP1",
"gene_hgnc_id": 5461,
"hgvs_c": "c.608T>C",
"hgvs_p": "p.Ile203Thr",
"transcript": "NM_001551.3",
"protein_id": "NP_001542.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 339,
"cds_start": 608,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356413.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001551.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGBP1",
"gene_hgnc_id": 5461,
"hgvs_c": "c.608T>C",
"hgvs_p": "p.Ile203Thr",
"transcript": "ENST00000356413.5",
"protein_id": "ENSP00000348784.4",
"transcript_support_level": 1,
"aa_start": 203,
"aa_end": null,
"aa_length": 339,
"cds_start": 608,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001551.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356413.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGBP1",
"gene_hgnc_id": 5461,
"hgvs_c": "c.608T>C",
"hgvs_p": "p.Ile203Thr",
"transcript": "ENST00000342206.10",
"protein_id": "ENSP00000363661.5",
"transcript_support_level": 1,
"aa_start": 203,
"aa_end": null,
"aa_length": 339,
"cds_start": 608,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342206.10"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGBP1",
"gene_hgnc_id": 5461,
"hgvs_c": "c.608T>C",
"hgvs_p": "p.Ile203Thr",
"transcript": "NM_001370192.1",
"protein_id": "NP_001357121.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 339,
"cds_start": 608,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370192.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGBP1",
"gene_hgnc_id": 5461,
"hgvs_c": "c.608T>C",
"hgvs_p": "p.Ile203Thr",
"transcript": "NM_001370193.1",
"protein_id": "NP_001357122.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 339,
"cds_start": 608,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370193.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGBP1",
"gene_hgnc_id": 5461,
"hgvs_c": "c.608T>C",
"hgvs_p": "p.Ile203Thr",
"transcript": "ENST00000937166.1",
"protein_id": "ENSP00000607225.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 339,
"cds_start": 608,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937166.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGBP1",
"gene_hgnc_id": 5461,
"hgvs_c": "c.608T>C",
"hgvs_p": "p.Ile203Thr",
"transcript": "ENST00000937167.1",
"protein_id": "ENSP00000607226.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 339,
"cds_start": 608,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937167.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGBP1",
"gene_hgnc_id": 5461,
"hgvs_c": "c.608T>C",
"hgvs_p": "p.Ile203Thr",
"transcript": "ENST00000943387.1",
"protein_id": "ENSP00000613446.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 339,
"cds_start": 608,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943387.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGBP1",
"gene_hgnc_id": 5461,
"hgvs_c": "c.602T>C",
"hgvs_p": "p.Ile201Thr",
"transcript": "ENST00000937168.1",
"protein_id": "ENSP00000607227.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 337,
"cds_start": 602,
"cds_end": null,
"cds_length": 1014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937168.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGBP1",
"gene_hgnc_id": 5461,
"hgvs_c": "c.494T>C",
"hgvs_p": "p.Ile165Thr",
"transcript": "ENST00000937170.1",
"protein_id": "ENSP00000607229.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 301,
"cds_start": 494,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937170.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "IGBP1",
"gene_hgnc_id": 5461,
"hgvs_c": "c.608T>C",
"hgvs_p": "p.Ile203Thr",
"transcript": "ENST00000937169.1",
"protein_id": "ENSP00000607228.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 274,
"cds_start": 608,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937169.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGBP1",
"gene_hgnc_id": 5461,
"hgvs_c": "c.314T>C",
"hgvs_p": "p.Ile105Thr",
"transcript": "ENST00000865225.1",
"protein_id": "ENSP00000535284.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 241,
"cds_start": 314,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865225.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IGBP1",
"gene_hgnc_id": 5461,
"hgvs_c": "c.483-3452T>C",
"hgvs_p": null,
"transcript": "NM_001370194.1",
"protein_id": "NP_001357123.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": null,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370194.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IGBP1",
"gene_hgnc_id": 5461,
"hgvs_c": "c.483-3452T>C",
"hgvs_p": null,
"transcript": "ENST00000943388.1",
"protein_id": "ENSP00000613447.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": null,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943388.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IGBP1",
"gene_hgnc_id": 5461,
"hgvs_c": "n.621T>C",
"hgvs_p": null,
"transcript": "NR_199784.1",
"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": "NR_199784.1"
},
{
"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": "IGBP1",
"gene_hgnc_id": 5461,
"hgvs_c": "n.496-2003T>C",
"hgvs_p": null,
"transcript": "NR_199785.1",
"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": "NR_199785.1"
}
],
"gene_symbol": "IGBP1",
"gene_hgnc_id": 5461,
"dbsnp": "rs61755732",
"frequency_reference_population": 0.005580671,
"hom_count_reference_population": 1963,
"allele_count_reference_population": 6545,
"gnomad_exomes_af": 0.00580182,
"gnomad_genomes_af": 0.00345561,
"gnomad_exomes_ac": 6163,
"gnomad_genomes_ac": 382,
"gnomad_exomes_homalt": 7,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01042446494102478,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.055,
"revel_prediction": "Benign",
"alphamissense_score": 0.1225,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.486,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001551.3",
"gene_symbol": "IGBP1",
"hgnc_id": 5461,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL,Unknown,AD",
"hgvs_c": "c.608T>C",
"hgvs_p": "p.Ile203Thr"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}