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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: 6-31723639-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31723639&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31723639,
"ref": "C",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_138272.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPIG6B",
"gene_hgnc_id": 13937,
"hgvs_c": "c.62C>G",
"hgvs_p": "p.Ala21Gly",
"transcript": "NM_138272.3",
"protein_id": "NP_612116.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 241,
"cds_start": 62,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000649779.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138272.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPIG6B",
"gene_hgnc_id": 13937,
"hgvs_c": "c.62C>G",
"hgvs_p": "p.Ala21Gly",
"transcript": "ENST00000649779.1",
"protein_id": "ENSP00000497720.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 241,
"cds_start": 62,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_138272.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649779.1"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPIG6B",
"gene_hgnc_id": 13937,
"hgvs_c": "c.62C>G",
"hgvs_p": "p.Ala21Gly",
"transcript": "ENST00000375809.7",
"protein_id": "ENSP00000364967.3",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 237,
"cds_start": 62,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375809.7"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPIG6B",
"gene_hgnc_id": 13937,
"hgvs_c": "c.62C>G",
"hgvs_p": "p.Ala21Gly",
"transcript": "ENST00000375810.8",
"protein_id": "ENSP00000364968.4",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 222,
"cds_start": 62,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375810.8"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPIG6B",
"gene_hgnc_id": 13937,
"hgvs_c": "c.62C>G",
"hgvs_p": "p.Ala21Gly",
"transcript": "ENST00000480039.5",
"protein_id": "ENSP00000419306.1",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 220,
"cds_start": 62,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000480039.5"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPIG6B",
"gene_hgnc_id": 13937,
"hgvs_c": "c.62C>G",
"hgvs_p": "p.Ala21Gly",
"transcript": "ENST00000375805.6",
"protein_id": "ENSP00000364963.2",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 217,
"cds_start": 62,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375805.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPIG6B",
"gene_hgnc_id": 13937,
"hgvs_c": "c.62C>G",
"hgvs_p": "p.Ala21Gly",
"transcript": "ENST00000375814.7",
"protein_id": "ENSP00000364972.3",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 197,
"cds_start": 62,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375814.7"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPIG6B",
"gene_hgnc_id": 13937,
"hgvs_c": "c.62C>G",
"hgvs_p": "p.Ala21Gly",
"transcript": "ENST00000375804.6",
"protein_id": "ENSP00000364962.2",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 193,
"cds_start": 62,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375804.6"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPIG6B",
"gene_hgnc_id": 13937,
"hgvs_c": "c.62C>G",
"hgvs_p": "p.Ala21Gly",
"transcript": "NM_025260.4",
"protein_id": "NP_079536.2",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 237,
"cds_start": 62,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025260.4"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPIG6B",
"gene_hgnc_id": 13937,
"hgvs_c": "c.62C>G",
"hgvs_p": "p.Ala21Gly",
"transcript": "NM_138277.3",
"protein_id": "NP_612121.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 222,
"cds_start": 62,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138277.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPIG6B",
"gene_hgnc_id": 13937,
"hgvs_c": "c.62C>G",
"hgvs_p": "p.Ala21Gly",
"transcript": "NM_138273.3",
"protein_id": "NP_612117.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 217,
"cds_start": 62,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138273.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPIG6B",
"gene_hgnc_id": 13937,
"hgvs_c": "c.62C>G",
"hgvs_p": "p.Ala21Gly",
"transcript": "NM_138275.3",
"protein_id": "NP_612119.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 197,
"cds_start": 62,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138275.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPIG6B",
"gene_hgnc_id": 13937,
"hgvs_c": "c.62C>G",
"hgvs_p": "p.Ala21Gly",
"transcript": "NM_138274.3",
"protein_id": "NP_612118.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 193,
"cds_start": 62,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138274.3"
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPIG6B",
"gene_hgnc_id": 13937,
"hgvs_c": "c.110C>G",
"hgvs_p": "p.Ala37Gly",
"transcript": "XM_017011333.2",
"protein_id": "XP_016866822.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 169,
"cds_start": 110,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011333.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPIG6B",
"gene_hgnc_id": 13937,
"hgvs_c": "n.269C>G",
"hgvs_p": null,
"transcript": "ENST00000460663.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "retained_intron",
"feature": "ENST00000460663.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPIG6B",
"gene_hgnc_id": 13937,
"hgvs_c": "n.66C>G",
"hgvs_p": null,
"transcript": "ENST00000466312.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "retained_intron",
"feature": "ENST00000466312.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPIG6B",
"gene_hgnc_id": 13937,
"hgvs_c": "n.62C>G",
"hgvs_p": null,
"transcript": "ENST00000471545.1",
"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": "retained_intron",
"feature": "ENST00000471545.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPIG6B",
"gene_hgnc_id": 13937,
"hgvs_c": "n.62C>G",
"hgvs_p": null,
"transcript": "ENST00000485548.5",
"protein_id": "ENSP00000420355.1",
"transcript_support_level": 4,
"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": "nonsense_mediated_decay",
"feature": "ENST00000485548.5"
}
],
"gene_symbol": "MPIG6B",
"gene_hgnc_id": 13937,
"dbsnp": "rs146950118",
"frequency_reference_population": 0.00023695226,
"hom_count_reference_population": 0,
"allele_count_reference_population": 370,
"gnomad_exomes_af": 0.000234891,
"gnomad_genomes_af": 0.00025602,
"gnomad_exomes_ac": 331,
"gnomad_genomes_ac": 39,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02645242214202881,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.3319999873638153,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.024,
"revel_prediction": "Benign",
"alphamissense_score": 0.13,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.248,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": 0.0012541943553768,
"dbscsnv_ada_prediction": "Benign",
"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_138272.3",
"gene_symbol": "MPIG6B",
"hgnc_id": 13937,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.62C>G",
"hgvs_p": "p.Ala21Gly"
}
],
"clinvar_disease": "Thrombocythemia 2,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|Thrombocythemia 2",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}