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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: 9-127935764-AT-GC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=127935764&ref=AT&alt=GC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 127935764,
"ref": "AT",
"alt": "GC",
"effect": "missense_variant",
"transcript": "NM_003863.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPM2",
"gene_hgnc_id": 3006,
"hgvs_c": "c.212_213delATinsGC",
"hgvs_p": "p.Tyr71Cys",
"transcript": "NM_003863.4",
"protein_id": "NP_003854.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 84,
"cds_start": 212,
"cds_end": null,
"cds_length": 255,
"cdna_start": 247,
"cdna_end": null,
"cdna_length": 912,
"mane_select": "ENST00000314392.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003863.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPM2",
"gene_hgnc_id": 3006,
"hgvs_c": "c.212_213delATinsGC",
"hgvs_p": "p.Tyr71Cys",
"transcript": "ENST00000314392.13",
"protein_id": "ENSP00000322181.8",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 84,
"cds_start": 212,
"cds_end": null,
"cds_length": 255,
"cdna_start": 247,
"cdna_end": null,
"cdna_length": 912,
"mane_select": "NM_003863.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314392.13"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "DPM2",
"gene_hgnc_id": 3006,
"hgvs_c": "n.504_505delATinsGC",
"hgvs_p": null,
"transcript": "ENST00000470181.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 928,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000470181.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "DPM2",
"gene_hgnc_id": 3006,
"hgvs_c": "n.996_997delATinsGC",
"hgvs_p": null,
"transcript": "ENST00000495270.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 1662,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000495270.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPM2",
"gene_hgnc_id": 3006,
"hgvs_c": "c.290_291delATinsGC",
"hgvs_p": "p.Tyr97Cys",
"transcript": "ENST00000911994.1",
"protein_id": "ENSP00000582053.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 110,
"cds_start": 290,
"cds_end": null,
"cds_length": 333,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 996,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911994.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPM2",
"gene_hgnc_id": 3006,
"hgvs_c": "c.200_201delATinsGC",
"hgvs_p": "p.Tyr67Cys",
"transcript": "ENST00000957588.1",
"protein_id": "ENSP00000627647.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 80,
"cds_start": 200,
"cds_end": null,
"cds_length": 243,
"cdna_start": 217,
"cdna_end": null,
"cdna_length": 881,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957588.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPM2",
"gene_hgnc_id": 3006,
"hgvs_c": "c.194_195delATinsGC",
"hgvs_p": "p.Tyr65Cys",
"transcript": "ENST00000911993.1",
"protein_id": "ENSP00000582052.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 78,
"cds_start": 194,
"cds_end": null,
"cds_length": 237,
"cdna_start": 236,
"cdna_end": null,
"cdna_length": 903,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911993.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPM2",
"gene_hgnc_id": 3006,
"hgvs_c": "c.179_180delATinsGC",
"hgvs_p": "p.Tyr60Cys",
"transcript": "ENST00000898430.1",
"protein_id": "ENSP00000568489.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 73,
"cds_start": 179,
"cds_end": null,
"cds_length": 222,
"cdna_start": 198,
"cdna_end": null,
"cdna_length": 862,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898430.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPM2",
"gene_hgnc_id": 3006,
"hgvs_c": "c.122_123delATinsGC",
"hgvs_p": "p.Tyr41Cys",
"transcript": "NM_001378437.1",
"protein_id": "NP_001365366.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 54,
"cds_start": 122,
"cds_end": null,
"cds_length": 165,
"cdna_start": 157,
"cdna_end": null,
"cdna_length": 822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378437.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPM2",
"gene_hgnc_id": 3006,
"hgvs_c": "c.122_123delATinsGC",
"hgvs_p": "p.Tyr41Cys",
"transcript": "ENST00000898429.1",
"protein_id": "ENSP00000568488.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 54,
"cds_start": 122,
"cds_end": null,
"cds_length": 165,
"cdna_start": 169,
"cdna_end": null,
"cdna_length": 841,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898429.1"
},
{
"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": "DPM2",
"gene_hgnc_id": 3006,
"hgvs_c": "n.362_363delATinsGC",
"hgvs_p": null,
"transcript": "ENST00000473360.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 744,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000473360.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "DPM2",
"gene_hgnc_id": 3006,
"hgvs_c": "n.369_370delATinsGC",
"hgvs_p": null,
"transcript": "NR_165631.1",
"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": 1035,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_165631.1"
},
{
"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": "DPM2",
"gene_hgnc_id": 3006,
"hgvs_c": "n.53_54delATinsGC",
"hgvs_p": null,
"transcript": "NR_165632.1",
"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": 719,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_165632.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000227218",
"gene_hgnc_id": null,
"hgvs_c": "n.143+1119_143+1120delATinsGC",
"hgvs_p": null,
"transcript": "ENST00000592240.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 564,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000592240.6"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000227218",
"gene_hgnc_id": null,
"hgvs_c": "n.126-4643_126-4642delATinsGC",
"hgvs_p": null,
"transcript": "ENST00000727590.1",
"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": 540,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000727590.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000227218",
"gene_hgnc_id": null,
"hgvs_c": "n.100-4643_100-4642delATinsGC",
"hgvs_p": null,
"transcript": "ENST00000727591.1",
"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": 533,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000727591.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000227218",
"gene_hgnc_id": null,
"hgvs_c": "n.63-4631_63-4630delATinsGC",
"hgvs_p": null,
"transcript": "ENST00000727592.1",
"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": 504,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000727592.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000227218",
"gene_hgnc_id": null,
"hgvs_c": "n.143+1119_143+1120delATinsGC",
"hgvs_p": null,
"transcript": "ENST00000727593.1",
"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": 519,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000727593.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000227218",
"gene_hgnc_id": null,
"hgvs_c": "n.63+1196_63+1197delATinsGC",
"hgvs_p": null,
"transcript": "ENST00000727594.1",
"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": 427,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000727594.1"
}
],
"gene_symbol": "DPM2",
"gene_hgnc_id": 3006,
"dbsnp": "rs1588689182",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.243,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_003863.4",
"gene_symbol": "DPM2",
"hgnc_id": 3006,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.212_213delATinsGC",
"hgvs_p": "p.Tyr71Cys"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000727590.1",
"gene_symbol": "ENSG00000227218",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.126-4643_126-4642delATinsGC",
"hgvs_p": null
}
],
"clinvar_disease": "Congenital muscular dystrophy with intellectual disability and severe epilepsy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Congenital muscular dystrophy with intellectual disability and severe epilepsy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}