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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: 2-74363626-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=74363626&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BS2"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "DCTN1",
"hgnc_id": 2711,
"hgvs_c": "c.3199G>A",
"hgvs_p": "p.Glu1067Lys",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_004082.5",
"verdict": "Likely_benign"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "ENSG00000264324",
"hgnc_id": null,
"hgvs_c": "n.-249G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000451608.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BS2",
"acmg_score": -2,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.1749,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.15,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.18112751841545105,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1278,
"aa_ref": "E",
"aa_start": 1067,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4455,
"cdna_start": 3473,
"cds_end": null,
"cds_length": 3837,
"cds_start": 3199,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 32,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_004082.5",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.3199G>A",
"hgvs_p": "p.Glu1067Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000628224.3",
"protein_coding": true,
"protein_id": "NP_004073.2",
"strand": false,
"transcript": "NM_004082.5",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1278,
"aa_ref": "E",
"aa_start": 1067,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4455,
"cdna_start": 3473,
"cds_end": null,
"cds_length": 3837,
"cds_start": 3199,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 32,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000628224.3",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.3199G>A",
"hgvs_p": "p.Glu1067Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004082.5",
"protein_coding": true,
"protein_id": "ENSP00000487279.2",
"strand": false,
"transcript": "ENST00000628224.3",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1273,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4485,
"cdna_start": null,
"cds_end": null,
"cds_length": 3822,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361874.8",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.3197-199G>A",
"hgvs_p": null,
"intron_rank": 26,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354791.4",
"strand": false,
"transcript": "ENST00000361874.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1253,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4024,
"cdna_start": null,
"cds_end": null,
"cds_length": 3762,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409567.7",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.3137-199G>A",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386843.3",
"strand": false,
"transcript": "ENST00000409567.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1236,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4365,
"cdna_start": null,
"cds_end": null,
"cds_length": 3711,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409240.5",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.3086-199G>A",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386406.1",
"strand": false,
"transcript": "ENST00000409240.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1139,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4145,
"cdna_start": null,
"cds_end": null,
"cds_length": 3420,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409438.5",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.2795-199G>A",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387270.1",
"strand": false,
"transcript": "ENST00000409438.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2444,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000491465.5",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "n.1276G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000491465.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1271,
"aa_ref": "E",
"aa_start": 1060,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4434,
"cdna_start": 3452,
"cds_end": null,
"cds_length": 3816,
"cds_start": 3178,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001190837.2",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.3178G>A",
"hgvs_p": "p.Glu1060Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001177766.1",
"strand": false,
"transcript": "NM_001190837.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1271,
"aa_ref": "E",
"aa_start": 1060,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4479,
"cdna_start": 3496,
"cds_end": null,
"cds_length": 3816,
"cds_start": 3178,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000394003.7",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.3178G>A",
"hgvs_p": "p.Glu1060Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377571.3",
"strand": false,
"transcript": "ENST00000394003.7",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1266,
"aa_ref": "E",
"aa_start": 1055,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4453,
"cdna_start": 3477,
"cds_end": null,
"cds_length": 3801,
"cds_start": 3163,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 32,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000971125.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.3163G>A",
"hgvs_p": "p.Glu1055Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641184.1",
"strand": false,
"transcript": "ENST00000971125.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "E",
"aa_start": 1054,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4411,
"cdna_start": 3435,
"cds_end": null,
"cds_length": 3798,
"cds_start": 3160,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000971127.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.3160G>A",
"hgvs_p": "p.Glu1054Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641186.1",
"strand": false,
"transcript": "ENST00000971127.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "E",
"aa_start": 1054,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4382,
"cdna_start": 3400,
"cds_end": null,
"cds_length": 3798,
"cds_start": 3160,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000971130.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.3160G>A",
"hgvs_p": "p.Glu1054Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641189.1",
"strand": false,
"transcript": "ENST00000971130.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1261,
"aa_ref": "E",
"aa_start": 1050,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4221,
"cdna_start": 3239,
"cds_end": null,
"cds_length": 3786,
"cds_start": 3148,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 32,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_001378991.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.3148G>A",
"hgvs_p": "p.Glu1050Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365920.1",
"strand": false,
"transcript": "NM_001378991.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1261,
"aa_ref": "E",
"aa_start": 1050,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4221,
"cdna_start": 3239,
"cds_end": null,
"cds_length": 3786,
"cds_start": 3148,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 32,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000680606.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.3148G>A",
"hgvs_p": "p.Glu1050Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505612.1",
"strand": false,
"transcript": "ENST00000680606.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1255,
"aa_ref": "E",
"aa_start": 1044,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4203,
"cdna_start": 3221,
"cds_end": null,
"cds_length": 3768,
"cds_start": 3130,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001378992.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.3130G>A",
"hgvs_p": "p.Glu1044Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365921.1",
"strand": false,
"transcript": "NM_001378992.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1144,
"aa_ref": "E",
"aa_start": 933,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4094,
"cdna_start": 3112,
"cds_end": null,
"cds_length": 3435,
"cds_start": 2797,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 27,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_023019.4",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.2797G>A",
"hgvs_p": "p.Glu933Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_075408.1",
"strand": false,
"transcript": "NM_023019.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1144,
"aa_ref": "E",
"aa_start": 933,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4160,
"cdna_start": 3180,
"cds_end": null,
"cds_length": 3435,
"cds_start": 2797,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 27,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000633691.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.2797G>A",
"hgvs_p": "p.Glu933Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000487724.1",
"strand": false,
"transcript": "ENST00000633691.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1266,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4441,
"cdna_start": null,
"cds_end": null,
"cds_length": 3801,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898642.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.3176-199G>A",
"hgvs_p": null,
"intron_rank": 25,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568701.1",
"strand": false,
"transcript": "ENST00000898642.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1265,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4381,
"cdna_start": null,
"cds_end": null,
"cds_length": 3798,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971131.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.3173-199G>A",
"hgvs_p": null,
"intron_rank": 25,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641190.1",
"strand": false,
"transcript": "ENST00000971131.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1260,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4424,
"cdna_start": null,
"cds_end": null,
"cds_length": 3783,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898641.1",
"gene_hgnc_id": 2711,
"gene_symbol": "DCTN1",
"hgvs_c": "c.3158-199G>A",
"hgvs_p": null,
"intron_rank": 24,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568700.1",
"strand": false,
"transcript": "ENST00000898641.1",
"transcript_support_level": null
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