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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: 9-126395688-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=126395688&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MVB12B",
"hgnc_id": 23368,
"hgvs_c": "c.653A>C",
"hgvs_p": "p.Asn218Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_033446.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": 0.0698,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.5,
"chr": "9",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.10177361965179443,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 319,
"aa_ref": "N",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4838,
"cdna_start": 754,
"cds_end": null,
"cds_length": 960,
"cds_start": 653,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_033446.3",
"gene_hgnc_id": 23368,
"gene_symbol": "MVB12B",
"hgvs_c": "c.653A>C",
"hgvs_p": "p.Asn218Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000361171.8",
"protein_coding": true,
"protein_id": "NP_258257.1",
"strand": true,
"transcript": "NM_033446.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 319,
"aa_ref": "N",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4838,
"cdna_start": 754,
"cds_end": null,
"cds_length": 960,
"cds_start": 653,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000361171.8",
"gene_hgnc_id": 23368,
"gene_symbol": "MVB12B",
"hgvs_c": "c.653A>C",
"hgvs_p": "p.Asn218Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_033446.3",
"protein_coding": true,
"protein_id": "ENSP00000354772.3",
"strand": true,
"transcript": "ENST00000361171.8",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 221,
"aa_ref": "N",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2666,
"cdna_start": 721,
"cds_end": null,
"cds_length": 666,
"cds_start": 653,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000489637.3",
"gene_hgnc_id": 23368,
"gene_symbol": "MVB12B",
"hgvs_c": "c.653A>C",
"hgvs_p": "p.Asn218Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485994.1",
"strand": true,
"transcript": "ENST00000489637.3",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 364,
"aa_ref": "N",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1463,
"cdna_start": 739,
"cds_end": null,
"cds_length": 1095,
"cds_start": 653,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000885963.1",
"gene_hgnc_id": 23368,
"gene_symbol": "MVB12B",
"hgvs_c": "c.653A>C",
"hgvs_p": "p.Asn218Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556022.1",
"strand": true,
"transcript": "ENST00000885963.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 336,
"aa_ref": "N",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4901,
"cdna_start": 819,
"cds_end": null,
"cds_length": 1011,
"cds_start": 704,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000885962.1",
"gene_hgnc_id": 23368,
"gene_symbol": "MVB12B",
"hgvs_c": "c.704A>C",
"hgvs_p": "p.Asn235Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556021.1",
"strand": true,
"transcript": "ENST00000885962.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 221,
"aa_ref": "N",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2703,
"cdna_start": 754,
"cds_end": null,
"cds_length": 666,
"cds_start": 653,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001011703.3",
"gene_hgnc_id": 23368,
"gene_symbol": "MVB12B",
"hgvs_c": "c.653A>C",
"hgvs_p": "p.Asn218Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001011703.1",
"strand": true,
"transcript": "NM_001011703.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 204,
"aa_ref": "N",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 770,
"cdna_start": 761,
"cds_end": null,
"cds_length": 617,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000402437.2",
"gene_hgnc_id": 23368,
"gene_symbol": "MVB12B",
"hgvs_c": "c.608A>C",
"hgvs_p": "p.Asn203Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384751.2",
"strand": true,
"transcript": "ENST00000402437.2",
"transcript_support_level": 3
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 337,
"aa_ref": "N",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1126,
"cdna_start": 754,
"cds_end": null,
"cds_length": 1014,
"cds_start": 653,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017015275.3",
"gene_hgnc_id": 23368,
"gene_symbol": "MVB12B",
"hgvs_c": "c.653A>C",
"hgvs_p": "p.Asn218Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870764.1",
"strand": true,
"transcript": "XM_017015275.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 322,
"aa_ref": "N",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1146,
"cdna_start": 774,
"cds_end": null,
"cds_length": 969,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017015276.2",
"gene_hgnc_id": 23368,
"gene_symbol": "MVB12B",
"hgvs_c": "c.608A>C",
"hgvs_p": "p.Asn203Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870765.1",
"strand": true,
"transcript": "XM_017015276.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 304,
"aa_ref": "N",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4858,
"cdna_start": 774,
"cds_end": null,
"cds_length": 915,
"cds_start": 608,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_005252297.1",
"gene_hgnc_id": 23368,
"gene_symbol": "MVB12B",
"hgvs_c": "c.608A>C",
"hgvs_p": "p.Asn203Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005252354.1",
"strand": true,
"transcript": "XM_005252297.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 266,
"aa_ref": "N",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1335,
"cdna_start": 754,
"cds_end": null,
"cds_length": 801,
"cds_start": 653,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017015277.3",
"gene_hgnc_id": 23368,
"gene_symbol": "MVB12B",
"hgvs_c": "c.653A>C",
"hgvs_p": "p.Asn218Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870766.1",
"strand": true,
"transcript": "XM_017015277.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 224,
"aa_ref": "N",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 966,
"cdna_start": 594,
"cds_end": null,
"cds_length": 675,
"cds_start": 314,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017015279.2",
"gene_hgnc_id": 23368,
"gene_symbol": "MVB12B",
"hgvs_c": "c.314A>C",
"hgvs_p": "p.Asn105Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016870768.1",
"strand": true,
"transcript": "XM_017015279.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 223,
"aa_ref": "N",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 830,
"cdna_start": 754,
"cds_end": null,
"cds_length": 672,
"cds_start": 653,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047424056.1",
"gene_hgnc_id": 23368,
"gene_symbol": "MVB12B",
"hgvs_c": "c.653A>C",
"hgvs_p": "p.Asn218Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047280012.1",
"strand": true,
"transcript": "XM_047424056.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 278,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4700,
"cdna_start": null,
"cds_end": null,
"cds_length": 837,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944841.1",
"gene_hgnc_id": 23368,
"gene_symbol": "MVB12B",
"hgvs_c": "c.539+3493A>C",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614900.1",
"strand": true,
"transcript": "ENST00000944841.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 203,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4504,
"cdna_start": null,
"cds_end": null,
"cds_length": 612,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000885961.1",
"gene_hgnc_id": 23368,
"gene_symbol": "MVB12B",
"hgvs_c": "c.409+9030A>C",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556020.1",
"strand": true,
"transcript": "ENST00000885961.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 421,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000470567.5",
"gene_hgnc_id": 23368,
"gene_symbol": "MVB12B",
"hgvs_c": "n.49A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000470567.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs200109520",
"effect": "missense_variant",
"frequency_reference_population": 0.000002478754,
"gene_hgnc_id": 23368,
"gene_symbol": "MVB12B",
"gnomad_exomes_ac": 3,
"gnomad_exomes_af": 0.00000205233,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000658077,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.709,
"pos": 126395688,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.016,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.07999999821186066,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.08,
"transcript": "NM_033446.3"
}
]
}