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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: 6-37643818-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=37643818&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 37643818,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_153487.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDGA1",
"gene_hgnc_id": 19267,
"hgvs_c": "c.2527A>G",
"hgvs_p": "p.Lys843Glu",
"transcript": "NM_153487.4",
"protein_id": "NP_705691.1",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 955,
"cds_start": 2527,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 3599,
"cdna_end": null,
"cdna_length": 10629,
"mane_select": "ENST00000434837.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153487.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDGA1",
"gene_hgnc_id": 19267,
"hgvs_c": "c.2527A>G",
"hgvs_p": "p.Lys843Glu",
"transcript": "ENST00000434837.8",
"protein_id": "ENSP00000402584.2",
"transcript_support_level": 1,
"aa_start": 843,
"aa_end": null,
"aa_length": 955,
"cds_start": 2527,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 3599,
"cdna_end": null,
"cdna_length": 10629,
"mane_select": "NM_153487.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434837.8"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDGA1",
"gene_hgnc_id": 19267,
"hgvs_c": "c.2527A>G",
"hgvs_p": "p.Lys843Glu",
"transcript": "ENST00000505425.5",
"protein_id": "ENSP00000422042.1",
"transcript_support_level": 5,
"aa_start": 843,
"aa_end": null,
"aa_length": 973,
"cds_start": 2527,
"cds_end": null,
"cds_length": 2922,
"cdna_start": 2527,
"cdna_end": null,
"cdna_length": 3021,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505425.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDGA1",
"gene_hgnc_id": 19267,
"hgvs_c": "c.2527A>G",
"hgvs_p": "p.Lys843Glu",
"transcript": "ENST00000650466.1",
"protein_id": "ENSP00000498018.1",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 973,
"cds_start": 2527,
"cds_end": null,
"cds_length": 2922,
"cdna_start": 2630,
"cdna_end": null,
"cdna_length": 3243,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650466.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDGA1",
"gene_hgnc_id": 19267,
"hgvs_c": "c.2527A>G",
"hgvs_p": "p.Lys843Glu",
"transcript": "ENST00000955606.1",
"protein_id": "ENSP00000625665.1",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 961,
"cds_start": 2527,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 3600,
"cdna_end": null,
"cdna_length": 4224,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955606.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDGA1",
"gene_hgnc_id": 19267,
"hgvs_c": "c.1735A>G",
"hgvs_p": "p.Lys579Glu",
"transcript": "ENST00000681439.1",
"protein_id": "ENSP00000506441.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 593,
"cds_start": 1735,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 2224,
"cdna_end": null,
"cdna_length": 2616,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681439.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDGA1",
"gene_hgnc_id": 19267,
"hgvs_c": "c.454A>G",
"hgvs_p": "p.Lys152Glu",
"transcript": "ENST00000418178.2",
"protein_id": "ENSP00000393330.2",
"transcript_support_level": 5,
"aa_start": 152,
"aa_end": null,
"aa_length": 157,
"cds_start": 454,
"cds_end": null,
"cds_length": 476,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 478,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418178.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDGA1",
"gene_hgnc_id": 19267,
"hgvs_c": "c.2527A>G",
"hgvs_p": "p.Lys843Glu",
"transcript": "XM_006715056.4",
"protein_id": "XP_006715119.1",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 973,
"cds_start": 2527,
"cds_end": null,
"cds_length": 2922,
"cdna_start": 3599,
"cdna_end": null,
"cdna_length": 4587,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715056.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDGA1",
"gene_hgnc_id": 19267,
"hgvs_c": "c.2527A>G",
"hgvs_p": "p.Lys843Glu",
"transcript": "XM_017010734.2",
"protein_id": "XP_016866223.1",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 961,
"cds_start": 2527,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 3599,
"cdna_end": null,
"cdna_length": 10647,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010734.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDGA1",
"gene_hgnc_id": 19267,
"hgvs_c": "c.2359A>G",
"hgvs_p": "p.Lys787Glu",
"transcript": "XM_047418637.1",
"protein_id": "XP_047274593.1",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 917,
"cds_start": 2359,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 4378,
"cdna_end": null,
"cdna_length": 5366,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418637.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDGA1",
"gene_hgnc_id": 19267,
"hgvs_c": "n.*225A>G",
"hgvs_p": null,
"transcript": "ENST00000502298.1",
"protein_id": "ENSP00000425911.1",
"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": 582,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000502298.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDGA1",
"gene_hgnc_id": 19267,
"hgvs_c": "n.*225A>G",
"hgvs_p": null,
"transcript": "ENST00000680397.1",
"protein_id": "ENSP00000504896.1",
"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": 1283,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680397.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDGA1",
"gene_hgnc_id": 19267,
"hgvs_c": "n.*477A>G",
"hgvs_p": null,
"transcript": "ENST00000681472.1",
"protein_id": "ENSP00000506519.1",
"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": 10577,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681472.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDGA1",
"gene_hgnc_id": 19267,
"hgvs_c": "n.3599A>G",
"hgvs_p": null,
"transcript": "XR_926141.3",
"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": 3939,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_926141.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDGA1",
"gene_hgnc_id": 19267,
"hgvs_c": "n.*225A>G",
"hgvs_p": null,
"transcript": "ENST00000502298.1",
"protein_id": "ENSP00000425911.1",
"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": 582,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000502298.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDGA1",
"gene_hgnc_id": 19267,
"hgvs_c": "n.*225A>G",
"hgvs_p": null,
"transcript": "ENST00000680397.1",
"protein_id": "ENSP00000504896.1",
"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": 1283,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000680397.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MDGA1",
"gene_hgnc_id": 19267,
"hgvs_c": "n.*477A>G",
"hgvs_p": null,
"transcript": "ENST00000681472.1",
"protein_id": "ENSP00000506519.1",
"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": 10577,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681472.1"
}
],
"gene_symbol": "MDGA1",
"gene_hgnc_id": 19267,
"dbsnp": "rs1232765819",
"frequency_reference_population": 0.0000020524917,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205249,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6899046301841736,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.293,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.263,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.587,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_153487.4",
"gene_symbol": "MDGA1",
"hgnc_id": 19267,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2527A>G",
"hgvs_p": "p.Lys843Glu"
}
],
"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
}