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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: 10-68201911-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=68201911&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 68201911,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_032578.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.3576G>C",
"hgvs_p": "p.Glu1192Asp",
"transcript": "NM_032578.4",
"protein_id": "NP_115967.2",
"transcript_support_level": null,
"aa_start": 1192,
"aa_end": null,
"aa_length": 1320,
"cds_start": 3576,
"cds_end": null,
"cds_length": 3963,
"cdna_start": 3813,
"cdna_end": null,
"cdna_length": 5762,
"mane_select": "ENST00000358913.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032578.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.3576G>C",
"hgvs_p": "p.Glu1192Asp",
"transcript": "ENST00000358913.10",
"protein_id": "ENSP00000351790.5",
"transcript_support_level": 1,
"aa_start": 1192,
"aa_end": null,
"aa_length": 1320,
"cds_start": 3576,
"cds_end": null,
"cds_length": 3963,
"cdna_start": 3813,
"cdna_end": null,
"cdna_length": 5762,
"mane_select": "NM_032578.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358913.10"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.3630G>C",
"hgvs_p": "p.Glu1210Asp",
"transcript": "ENST00000540630.6",
"protein_id": "ENSP00000441668.3",
"transcript_support_level": 1,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1338,
"cds_start": 3630,
"cds_end": null,
"cds_length": 4017,
"cdna_start": 3631,
"cdna_end": null,
"cdna_length": 5580,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540630.6"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.3576G>C",
"hgvs_p": "p.Glu1192Asp",
"transcript": "ENST00000613327.5",
"protein_id": "ENSP00000480757.2",
"transcript_support_level": 1,
"aa_start": 1192,
"aa_end": null,
"aa_length": 1320,
"cds_start": 3576,
"cds_end": null,
"cds_length": 3963,
"cdna_start": 3757,
"cdna_end": null,
"cdna_length": 5392,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613327.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.2751G>C",
"hgvs_p": "p.Glu917Asp",
"transcript": "ENST00000354393.7",
"protein_id": "ENSP00000346369.2",
"transcript_support_level": 1,
"aa_start": 917,
"aa_end": null,
"aa_length": 1045,
"cds_start": 2751,
"cds_end": null,
"cds_length": 3138,
"cdna_start": 3001,
"cdna_end": null,
"cdna_length": 4632,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354393.7"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.3576G>C",
"hgvs_p": "p.Glu1192Asp",
"transcript": "NM_001256267.2",
"protein_id": "NP_001243196.1",
"transcript_support_level": null,
"aa_start": 1192,
"aa_end": null,
"aa_length": 1320,
"cds_start": 3576,
"cds_end": null,
"cds_length": 3963,
"cdna_start": 3873,
"cdna_end": null,
"cdna_length": 5822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256267.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.2694G>C",
"hgvs_p": "p.Glu898Asp",
"transcript": "NM_001256268.2",
"protein_id": "NP_001243197.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 1026,
"cds_start": 2694,
"cds_end": null,
"cds_length": 3081,
"cdna_start": 4117,
"cdna_end": null,
"cdna_length": 6066,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256268.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.3654G>C",
"hgvs_p": "p.Glu1218Asp",
"transcript": "XM_017016833.2",
"protein_id": "XP_016872322.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1346,
"cds_start": 3654,
"cds_end": null,
"cds_length": 4041,
"cdna_start": 4016,
"cdna_end": null,
"cdna_length": 5965,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016833.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.3654G>C",
"hgvs_p": "p.Glu1218Asp",
"transcript": "XM_047425876.1",
"protein_id": "XP_047281832.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1346,
"cds_start": 3654,
"cds_end": null,
"cds_length": 4041,
"cdna_start": 4372,
"cdna_end": null,
"cdna_length": 6321,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425876.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.3576G>C",
"hgvs_p": "p.Glu1192Asp",
"transcript": "XM_017016834.3",
"protein_id": "XP_016872323.1",
"transcript_support_level": null,
"aa_start": 1192,
"aa_end": null,
"aa_length": 1320,
"cds_start": 3576,
"cds_end": null,
"cds_length": 3963,
"cdna_start": 3673,
"cdna_end": null,
"cdna_length": 5622,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016834.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.2454G>C",
"hgvs_p": "p.Glu818Asp",
"transcript": "XM_047425877.1",
"protein_id": "XP_047281833.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 946,
"cds_start": 2454,
"cds_end": null,
"cds_length": 2841,
"cdna_start": 2770,
"cdna_end": null,
"cdna_length": 4719,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425877.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.2454G>C",
"hgvs_p": "p.Glu818Asp",
"transcript": "XM_047425878.1",
"protein_id": "XP_047281834.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 946,
"cds_start": 2454,
"cds_end": null,
"cds_length": 2841,
"cdna_start": 6753,
"cdna_end": null,
"cdna_length": 8702,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425878.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.2454G>C",
"hgvs_p": "p.Glu818Asp",
"transcript": "XM_047425879.1",
"protein_id": "XP_047281835.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 946,
"cds_start": 2454,
"cds_end": null,
"cds_length": 2841,
"cdna_start": 2973,
"cdna_end": null,
"cdna_length": 4922,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425879.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "c.2259G>C",
"hgvs_p": "p.Glu753Asp",
"transcript": "XM_047425880.1",
"protein_id": "XP_047281836.1",
"transcript_support_level": null,
"aa_start": 753,
"aa_end": null,
"aa_length": 881,
"cds_start": 2259,
"cds_end": null,
"cds_length": 2646,
"cdna_start": 2340,
"cdna_end": null,
"cdna_length": 4289,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425880.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "n.*839G>C",
"hgvs_p": null,
"transcript": "ENST00000688812.1",
"protein_id": "ENSP00000510658.1",
"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": 4744,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000688812.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "n.*2847G>C",
"hgvs_p": null,
"transcript": "ENST00000690544.1",
"protein_id": "ENSP00000508989.1",
"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": 5209,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000690544.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "n.3113G>C",
"hgvs_p": null,
"transcript": "NR_045662.4",
"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": 5062,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_045662.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "n.3650G>C",
"hgvs_p": null,
"transcript": "NR_045663.4",
"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": 5599,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_045663.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "n.*839G>C",
"hgvs_p": null,
"transcript": "ENST00000688812.1",
"protein_id": "ENSP00000510658.1",
"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": 4744,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000688812.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"hgvs_c": "n.*2847G>C",
"hgvs_p": null,
"transcript": "ENST00000690544.1",
"protein_id": "ENSP00000508989.1",
"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": 5209,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000690544.1"
}
],
"gene_symbol": "MYPN",
"gene_hgnc_id": 23246,
"dbsnp": "rs1487958900",
"frequency_reference_population": 6.840488e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84049e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.725419819355011,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.452,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8074,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.899,
"phylop100way_prediction": "Benign",
"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_032578.4",
"gene_symbol": "MYPN",
"hgnc_id": 23246,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.3576G>C",
"hgvs_p": "p.Glu1192Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}