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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: 17-61869057-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=61869057&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 61869057,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_020748.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"hgvs_c": "c.3221A>G",
"hgvs_p": "p.Asn1074Ser",
"transcript": "NM_001351695.2",
"protein_id": "NP_001338624.2",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3221,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 3568,
"cdna_end": null,
"cdna_length": 6128,
"mane_select": "ENST00000251334.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351695.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"hgvs_c": "c.3221A>G",
"hgvs_p": "p.Asn1074Ser",
"transcript": "ENST00000251334.7",
"protein_id": "ENSP00000251334.6",
"transcript_support_level": 2,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3221,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 3568,
"cdna_end": null,
"cdna_length": 6128,
"mane_select": "NM_001351695.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000251334.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"hgvs_c": "c.3245A>G",
"hgvs_p": "p.Asn1082Ser",
"transcript": "ENST00000444766.7",
"protein_id": "ENSP00000414237.3",
"transcript_support_level": 1,
"aa_start": 1082,
"aa_end": null,
"aa_length": 1204,
"cds_start": 3245,
"cds_end": null,
"cds_length": 3615,
"cdna_start": 3321,
"cdna_end": null,
"cdna_length": 5878,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444766.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"hgvs_c": "c.3245A>G",
"hgvs_p": "p.Asn1082Ser",
"transcript": "NM_020748.4",
"protein_id": "NP_065799.2",
"transcript_support_level": null,
"aa_start": 1082,
"aa_end": null,
"aa_length": 1204,
"cds_start": 3245,
"cds_end": null,
"cds_length": 3615,
"cdna_start": 3287,
"cdna_end": null,
"cdna_length": 5847,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020748.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"hgvs_c": "c.3221A>G",
"hgvs_p": "p.Asn1074Ser",
"transcript": "NM_001330417.2",
"protein_id": "NP_001317346.2",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3221,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 3300,
"cdna_end": null,
"cdna_length": 5860,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330417.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"hgvs_c": "c.3221A>G",
"hgvs_p": "p.Asn1074Ser",
"transcript": "ENST00000647009.1",
"protein_id": "ENSP00000496407.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3221,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 3300,
"cdna_end": null,
"cdna_length": 5837,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647009.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"hgvs_c": "c.3221A>G",
"hgvs_p": "p.Asn1074Ser",
"transcript": "ENST00000866719.1",
"protein_id": "ENSP00000536778.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3221,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 4559,
"cdna_end": null,
"cdna_length": 6677,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866719.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"hgvs_c": "c.3221A>G",
"hgvs_p": "p.Asn1074Ser",
"transcript": "ENST00000963385.1",
"protein_id": "ENSP00000633444.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1196,
"cds_start": 3221,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 3421,
"cdna_end": null,
"cdna_length": 5978,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963385.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"hgvs_c": "c.3143A>G",
"hgvs_p": "p.Asn1048Ser",
"transcript": "ENST00000913655.1",
"protein_id": "ENSP00000583714.1",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1170,
"cds_start": 3143,
"cds_end": null,
"cds_length": 3513,
"cdna_start": 3475,
"cdna_end": null,
"cdna_length": 6035,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913655.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"hgvs_c": "c.3140A>G",
"hgvs_p": "p.Asn1047Ser",
"transcript": "ENST00000866720.1",
"protein_id": "ENSP00000536779.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1169,
"cds_start": 3140,
"cds_end": null,
"cds_length": 3510,
"cdna_start": 3305,
"cdna_end": null,
"cdna_length": 4760,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866720.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"hgvs_c": "c.3113A>G",
"hgvs_p": "p.Asn1038Ser",
"transcript": "ENST00000913656.1",
"protein_id": "ENSP00000583715.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 1160,
"cds_start": 3113,
"cds_end": null,
"cds_length": 3483,
"cdna_start": 3435,
"cdna_end": null,
"cdna_length": 5995,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913656.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"hgvs_c": "c.3107A>G",
"hgvs_p": "p.Asn1036Ser",
"transcript": "ENST00000866721.1",
"protein_id": "ENSP00000536780.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1158,
"cds_start": 3107,
"cds_end": null,
"cds_length": 3477,
"cdna_start": 3449,
"cdna_end": null,
"cdna_length": 3865,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866721.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"hgvs_c": "c.3107A>G",
"hgvs_p": "p.Asn1036Ser",
"transcript": "ENST00000913653.1",
"protein_id": "ENSP00000583712.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1158,
"cds_start": 3107,
"cds_end": null,
"cds_length": 3477,
"cdna_start": 3171,
"cdna_end": null,
"cdna_length": 5728,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913653.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"hgvs_c": "c.3107A>G",
"hgvs_p": "p.Asn1036Ser",
"transcript": "ENST00000913654.1",
"protein_id": "ENSP00000583713.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1158,
"cds_start": 3107,
"cds_end": null,
"cds_length": 3477,
"cdna_start": 3186,
"cdna_end": null,
"cdna_length": 5739,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913654.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"hgvs_c": "c.3086A>G",
"hgvs_p": "p.Asn1029Ser",
"transcript": "ENST00000963386.1",
"protein_id": "ENSP00000633445.1",
"transcript_support_level": null,
"aa_start": 1029,
"aa_end": null,
"aa_length": 1151,
"cds_start": 3086,
"cds_end": null,
"cds_length": 3456,
"cdna_start": 3398,
"cdna_end": null,
"cdna_length": 5949,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963386.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"hgvs_c": "c.2333A>G",
"hgvs_p": "p.Asn778Ser",
"transcript": "ENST00000913652.1",
"protein_id": "ENSP00000583711.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 900,
"cds_start": 2333,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 2680,
"cdna_end": null,
"cdna_length": 5238,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913652.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"hgvs_c": "n.*2742A>G",
"hgvs_p": null,
"transcript": "ENST00000646745.1",
"protein_id": "ENSP00000495976.1",
"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": 6226,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000646745.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"hgvs_c": "n.*2742A>G",
"hgvs_p": null,
"transcript": "ENST00000646745.1",
"protein_id": "ENSP00000495976.1",
"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": 6226,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000646745.1"
}
],
"gene_symbol": "INTS2",
"gene_hgnc_id": 29241,
"dbsnp": "rs755638206",
"frequency_reference_population": 0.000027341895,
"hom_count_reference_population": 0,
"allele_count_reference_population": 44,
"gnomad_exomes_af": 0.0000253939,
"gnomad_genomes_af": 0.0000459897,
"gnomad_exomes_ac": 37,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.15448078513145447,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.083,
"revel_prediction": "Benign",
"alphamissense_score": 0.0848,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.592,
"phylop100way_prediction": "Uncertain_significance",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_020748.4",
"gene_symbol": "INTS2",
"hgnc_id": 29241,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3245A>G",
"hgvs_p": "p.Asn1082Ser"
}
],
"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
}