← Back to variant description
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: 19-36008239-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=36008239&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 36008239,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000324444.9",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Pro86Leu",
"transcript": "NM_001039876.3",
"protein_id": "NP_001034965.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 404,
"cds_start": 257,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 1377,
"mane_select": "ENST00000324444.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Pro86Leu",
"transcript": "ENST00000324444.9",
"protein_id": "ENSP00000316130.3",
"transcript_support_level": 5,
"aa_start": 86,
"aa_end": null,
"aa_length": 404,
"cds_start": 257,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 1377,
"mane_select": "NM_001039876.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Pro86Leu",
"transcript": "ENST00000340477.9",
"protein_id": "ENSP00000343152.5",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 291,
"cds_start": 257,
"cds_end": null,
"cds_length": 876,
"cdna_start": 358,
"cdna_end": null,
"cdna_length": 1004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Pro86Leu",
"transcript": "ENST00000490730.1",
"protein_id": "ENSP00000422716.1",
"transcript_support_level": 2,
"aa_start": 86,
"aa_end": null,
"aa_length": 353,
"cds_start": 257,
"cds_end": null,
"cds_length": 1063,
"cdna_start": 369,
"cdna_end": null,
"cdna_length": 1175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Pro86Leu",
"transcript": "NM_001297735.3",
"protein_id": "NP_001284664.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 291,
"cds_start": 257,
"cds_end": null,
"cds_length": 876,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 1038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.218C>T",
"hgvs_p": "p.Pro73Leu",
"transcript": "ENST00000503121.5",
"protein_id": "ENSP00000425550.1",
"transcript_support_level": 3,
"aa_start": 73,
"aa_end": null,
"aa_length": 149,
"cds_start": 218,
"cds_end": null,
"cds_length": 451,
"cdna_start": 220,
"cdna_end": null,
"cdna_length": 453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Pro86Leu",
"transcript": "XM_047438344.1",
"protein_id": "XP_047294300.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 356,
"cds_start": 257,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 1233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Pro86Leu",
"transcript": "XM_047438346.1",
"protein_id": "XP_047294302.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 321,
"cds_start": 257,
"cds_end": null,
"cds_length": 966,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 1128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Pro86Leu",
"transcript": "XM_047438348.1",
"protein_id": "XP_047294304.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 274,
"cds_start": 257,
"cds_end": null,
"cds_length": 825,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 1139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Pro86Leu",
"transcript": "XM_047438349.1",
"protein_id": "XP_047294305.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 256,
"cds_start": 257,
"cds_end": null,
"cds_length": 771,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Pro86Leu",
"transcript": "XM_047438351.1",
"protein_id": "XP_047294307.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 208,
"cds_start": 257,
"cds_end": null,
"cds_length": 627,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "n.369C>T",
"hgvs_p": null,
"transcript": "ENST00000465425.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "n.372C>T",
"hgvs_p": null,
"transcript": "ENST00000505054.2",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.65+315C>T",
"hgvs_p": null,
"transcript": "ENST00000397428.8",
"protein_id": "ENSP00000380572.4",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 43,
"cds_start": -4,
"cds_end": null,
"cds_length": 132,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.39+315C>T",
"hgvs_p": null,
"transcript": "XM_047438345.1",
"protein_id": "XP_047294301.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 324,
"cds_start": -4,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.39+315C>T",
"hgvs_p": null,
"transcript": "XM_047438347.1",
"protein_id": "XP_047294303.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 276,
"cds_start": -4,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"hgvs_c": "c.39+315C>T",
"hgvs_p": null,
"transcript": "XM_047438350.1",
"protein_id": "XP_047294306.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 211,
"cds_start": -4,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SYNE4",
"gene_hgnc_id": 26703,
"dbsnp": "rs200630302",
"frequency_reference_population": 0.00017876185,
"hom_count_reference_population": 2,
"allele_count_reference_population": 288,
"gnomad_exomes_af": 0.0000932242,
"gnomad_genomes_af": 0.000998463,
"gnomad_exomes_ac": 136,
"gnomad_genomes_ac": 152,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004809826612472534,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.04,
"revel_prediction": "Benign",
"alphamissense_score": 0.087,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.265,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.11,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000324444.9",
"gene_symbol": "SYNE4",
"hgnc_id": 26703,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Pro86Leu"
}
],
"clinvar_disease": "SYNE4-related disorder,not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "SYNE4-related disorder|not provided|not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}