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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: 22-39374335-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=39374335&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 39374335,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004711.5",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGR1",
"gene_hgnc_id": 11498,
"hgvs_c": "c.119T>C",
"hgvs_p": "p.Phe40Ser",
"transcript": "NM_004711.5",
"protein_id": "NP_004702.2",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 233,
"cds_start": 119,
"cds_end": null,
"cds_length": 702,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 4383,
"mane_select": "ENST00000328933.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004711.5"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGR1",
"gene_hgnc_id": 11498,
"hgvs_c": "c.119T>C",
"hgvs_p": "p.Phe40Ser",
"transcript": "ENST00000328933.10",
"protein_id": "ENSP00000332287.5",
"transcript_support_level": 1,
"aa_start": 40,
"aa_end": null,
"aa_length": 233,
"cds_start": 119,
"cds_end": null,
"cds_length": 702,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 4383,
"mane_select": "NM_004711.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000328933.10"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGR1",
"gene_hgnc_id": 11498,
"hgvs_c": "c.122T>C",
"hgvs_p": "p.Phe41Ser",
"transcript": "ENST00000381535.4",
"protein_id": "ENSP00000370946.4",
"transcript_support_level": 1,
"aa_start": 41,
"aa_end": null,
"aa_length": 192,
"cds_start": 122,
"cds_end": null,
"cds_length": 579,
"cdna_start": 147,
"cdna_end": null,
"cdna_length": 1295,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381535.4"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGR1",
"gene_hgnc_id": 11498,
"hgvs_c": "c.119T>C",
"hgvs_p": "p.Phe40Ser",
"transcript": "ENST00000318801.8",
"protein_id": "ENSP00000318845.4",
"transcript_support_level": 1,
"aa_start": 40,
"aa_end": null,
"aa_length": 191,
"cds_start": 119,
"cds_end": null,
"cds_length": 576,
"cdna_start": 205,
"cdna_end": null,
"cdna_length": 1361,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318801.8"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGR1",
"gene_hgnc_id": 11498,
"hgvs_c": "c.236T>C",
"hgvs_p": "p.Phe79Ser",
"transcript": "ENST00000892373.1",
"protein_id": "ENSP00000562432.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 272,
"cds_start": 236,
"cds_end": null,
"cds_length": 819,
"cdna_start": 289,
"cdna_end": null,
"cdna_length": 4536,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892373.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGR1",
"gene_hgnc_id": 11498,
"hgvs_c": "c.119T>C",
"hgvs_p": "p.Phe40Ser",
"transcript": "ENST00000968129.1",
"protein_id": "ENSP00000638188.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 269,
"cds_start": 119,
"cds_end": null,
"cds_length": 810,
"cdna_start": 156,
"cdna_end": null,
"cdna_length": 4512,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968129.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGR1",
"gene_hgnc_id": 11498,
"hgvs_c": "c.236T>C",
"hgvs_p": "p.Phe79Ser",
"transcript": "ENST00000968127.1",
"protein_id": "ENSP00000638186.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 250,
"cds_start": 236,
"cds_end": null,
"cds_length": 753,
"cdna_start": 338,
"cdna_end": null,
"cdna_length": 4515,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968127.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGR1",
"gene_hgnc_id": 11498,
"hgvs_c": "c.119T>C",
"hgvs_p": "p.Phe40Ser",
"transcript": "ENST00000933678.1",
"protein_id": "ENSP00000603737.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 239,
"cds_start": 119,
"cds_end": null,
"cds_length": 720,
"cdna_start": 141,
"cdna_end": null,
"cdna_length": 4193,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933678.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGR1",
"gene_hgnc_id": 11498,
"hgvs_c": "c.119T>C",
"hgvs_p": "p.Phe40Ser",
"transcript": "ENST00000933677.1",
"protein_id": "ENSP00000603736.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 217,
"cds_start": 119,
"cds_end": null,
"cds_length": 654,
"cdna_start": 145,
"cdna_end": null,
"cdna_length": 4344,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933677.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGR1",
"gene_hgnc_id": 11498,
"hgvs_c": "c.119T>C",
"hgvs_p": "p.Phe40Ser",
"transcript": "ENST00000892372.1",
"protein_id": "ENSP00000562431.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 211,
"cds_start": 119,
"cds_end": null,
"cds_length": 636,
"cdna_start": 204,
"cdna_end": null,
"cdna_length": 4395,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892372.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGR1",
"gene_hgnc_id": 11498,
"hgvs_c": "c.17T>C",
"hgvs_p": "p.Phe6Ser",
"transcript": "ENST00000968128.1",
"protein_id": "ENSP00000638187.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 199,
"cds_start": 17,
"cds_end": null,
"cds_length": 600,
"cdna_start": 81,
"cdna_end": null,
"cdna_length": 4324,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968128.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGR1",
"gene_hgnc_id": 11498,
"hgvs_c": "c.122T>C",
"hgvs_p": "p.Phe41Ser",
"transcript": "NM_145738.3",
"protein_id": "NP_663791.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 192,
"cds_start": 122,
"cds_end": null,
"cds_length": 579,
"cdna_start": 170,
"cdna_end": null,
"cdna_length": 1318,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145738.3"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGR1",
"gene_hgnc_id": 11498,
"hgvs_c": "c.119T>C",
"hgvs_p": "p.Phe40Ser",
"transcript": "NM_145731.4",
"protein_id": "NP_663783.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 191,
"cds_start": 119,
"cds_end": null,
"cds_length": 576,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 1287,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145731.4"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGR1",
"gene_hgnc_id": 11498,
"hgvs_c": "c.119T>C",
"hgvs_p": "p.Phe40Ser",
"transcript": "ENST00000406293.7",
"protein_id": "ENSP00000385447.3",
"transcript_support_level": 2,
"aa_start": 40,
"aa_end": null,
"aa_length": 169,
"cds_start": 119,
"cds_end": null,
"cds_length": 510,
"cdna_start": 139,
"cdna_end": null,
"cdna_length": 564,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406293.7"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGR1",
"gene_hgnc_id": 11498,
"hgvs_c": "c.119T>C",
"hgvs_p": "p.Phe40Ser",
"transcript": "ENST00000216155.11",
"protein_id": "ENSP00000216155.7",
"transcript_support_level": 3,
"aa_start": 40,
"aa_end": null,
"aa_length": 118,
"cds_start": 119,
"cds_end": null,
"cds_length": 357,
"cdna_start": 181,
"cdna_end": null,
"cdna_length": 497,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216155.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGR1",
"gene_hgnc_id": 11498,
"hgvs_c": "n.119T>C",
"hgvs_p": null,
"transcript": "ENST00000415332.1",
"protein_id": "ENSP00000412442.1",
"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": 928,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000415332.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNGR1",
"gene_hgnc_id": 11498,
"hgvs_c": "n.124T>C",
"hgvs_p": null,
"transcript": "ENST00000489206.1",
"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": 1999,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000489206.1"
}
],
"gene_symbol": "SYNGR1",
"gene_hgnc_id": 11498,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9731552600860596,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.657,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9449,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.18,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.01,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_004711.5",
"gene_symbol": "SYNGR1",
"hgnc_id": 11498,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.119T>C",
"hgvs_p": "p.Phe40Ser"
}
],
"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
}