← 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: X-79361367-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=79361367&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 79361367,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004867.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITM2A",
"gene_hgnc_id": 6173,
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222Lys",
"transcript": "NM_004867.5",
"protein_id": "NP_004858.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 263,
"cds_start": 665,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373298.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004867.5"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITM2A",
"gene_hgnc_id": 6173,
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222Lys",
"transcript": "ENST00000373298.7",
"protein_id": "ENSP00000362395.2",
"transcript_support_level": 1,
"aa_start": 222,
"aa_end": null,
"aa_length": 263,
"cds_start": 665,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004867.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373298.7"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITM2A",
"gene_hgnc_id": 6173,
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222Lys",
"transcript": "ENST00000865381.1",
"protein_id": "ENSP00000535440.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 263,
"cds_start": 665,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865381.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITM2A",
"gene_hgnc_id": 6173,
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222Lys",
"transcript": "ENST00000865383.1",
"protein_id": "ENSP00000535442.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 263,
"cds_start": 665,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865383.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITM2A",
"gene_hgnc_id": 6173,
"hgvs_c": "c.662G>A",
"hgvs_p": "p.Arg221Lys",
"transcript": "ENST00000933703.1",
"protein_id": "ENSP00000603762.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 262,
"cds_start": 662,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933703.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITM2A",
"gene_hgnc_id": 6173,
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Arg213Lys",
"transcript": "ENST00000933705.1",
"protein_id": "ENSP00000603764.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 254,
"cds_start": 638,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933705.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITM2A",
"gene_hgnc_id": 6173,
"hgvs_c": "c.638G>A",
"hgvs_p": "p.Arg213Lys",
"transcript": "ENST00000944509.1",
"protein_id": "ENSP00000614568.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 254,
"cds_start": 638,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944509.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITM2A",
"gene_hgnc_id": 6173,
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208Lys",
"transcript": "ENST00000944508.1",
"protein_id": "ENSP00000614567.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 249,
"cds_start": 623,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944508.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITM2A",
"gene_hgnc_id": 6173,
"hgvs_c": "c.554G>A",
"hgvs_p": "p.Arg185Lys",
"transcript": "ENST00000933706.1",
"protein_id": "ENSP00000603765.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 226,
"cds_start": 554,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933706.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITM2A",
"gene_hgnc_id": 6173,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178Lys",
"transcript": "NM_001171581.2",
"protein_id": "NP_001165052.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 219,
"cds_start": 533,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171581.2"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITM2A",
"gene_hgnc_id": 6173,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178Lys",
"transcript": "ENST00000434584.2",
"protein_id": "ENSP00000415533.2",
"transcript_support_level": 2,
"aa_start": 178,
"aa_end": null,
"aa_length": 219,
"cds_start": 533,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434584.2"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITM2A",
"gene_hgnc_id": 6173,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178Lys",
"transcript": "ENST00000865382.1",
"protein_id": "ENSP00000535441.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 219,
"cds_start": 533,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865382.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITM2A",
"gene_hgnc_id": 6173,
"hgvs_c": "c.533G>A",
"hgvs_p": "p.Arg178Lys",
"transcript": "ENST00000933702.1",
"protein_id": "ENSP00000603761.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 219,
"cds_start": 533,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933702.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITM2A",
"gene_hgnc_id": 6173,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Arg169Lys",
"transcript": "ENST00000933704.1",
"protein_id": "ENSP00000603763.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 210,
"cds_start": 506,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933704.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "ITM2A",
"gene_hgnc_id": 6173,
"hgvs_c": "n.625G>A",
"hgvs_p": null,
"transcript": "ENST00000469541.5",
"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": "ENST00000469541.5"
}
],
"gene_symbol": "ITM2A",
"gene_hgnc_id": 6173,
"dbsnp": "rs1394128672",
"frequency_reference_population": 0.0000088995685,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000889957,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.059526026248931885,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.175,
"revel_prediction": "Benign",
"alphamissense_score": 0.1239,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.621,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_004867.5",
"gene_symbol": "ITM2A",
"hgnc_id": 6173,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.665G>A",
"hgvs_p": "p.Arg222Lys"
}
],
"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
}