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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: 2-74378058-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=74378058&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 74378058,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000628224.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.Gln74Arg",
"transcript": "NM_004082.5",
"protein_id": "NP_004073.2",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1278,
"cds_start": 221,
"cds_end": null,
"cds_length": 3837,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 4455,
"mane_select": "ENST00000628224.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.Gln74Arg",
"transcript": "ENST00000628224.3",
"protein_id": "ENSP00000487279.2",
"transcript_support_level": 5,
"aa_start": 74,
"aa_end": null,
"aa_length": 1278,
"cds_start": 221,
"cds_end": null,
"cds_length": 3837,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 4455,
"mane_select": "NM_004082.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.Gln74Arg",
"transcript": "ENST00000361874.8",
"protein_id": "ENSP00000354791.4",
"transcript_support_level": 1,
"aa_start": 74,
"aa_end": null,
"aa_length": 1273,
"cds_start": 221,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 4485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.Gln74Arg",
"transcript": "ENST00000409567.7",
"protein_id": "ENSP00000386843.3",
"transcript_support_level": 1,
"aa_start": 74,
"aa_end": null,
"aa_length": 1253,
"cds_start": 221,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 483,
"cdna_end": null,
"cdna_length": 4024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Gln57Arg",
"transcript": "ENST00000409240.5",
"protein_id": "ENSP00000386406.1",
"transcript_support_level": 1,
"aa_start": 57,
"aa_end": null,
"aa_length": 1236,
"cds_start": 170,
"cds_end": null,
"cds_length": 3711,
"cdna_start": 482,
"cdna_end": null,
"cdna_length": 4365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.Gln74Arg",
"transcript": "NM_001190837.2",
"protein_id": "NP_001177766.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1271,
"cds_start": 221,
"cds_end": null,
"cds_length": 3816,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 4434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.Gln74Arg",
"transcript": "ENST00000394003.7",
"protein_id": "ENSP00000377571.3",
"transcript_support_level": 5,
"aa_start": 74,
"aa_end": null,
"aa_length": 1271,
"cds_start": 221,
"cds_end": null,
"cds_length": 3816,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 4479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Gln57Arg",
"transcript": "NM_001378991.1",
"protein_id": "NP_001365920.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1261,
"cds_start": 170,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 4221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Gln57Arg",
"transcript": "ENST00000680606.1",
"protein_id": "ENSP00000505612.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1261,
"cds_start": 170,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 4221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Gln57Arg",
"transcript": "ENST00000409868.5",
"protein_id": "ENSP00000387327.1",
"transcript_support_level": 5,
"aa_start": 57,
"aa_end": null,
"aa_length": 1256,
"cds_start": 170,
"cds_end": null,
"cds_length": 3771,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 4202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Gln57Arg",
"transcript": "NM_001378992.1",
"protein_id": "NP_001365921.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1255,
"cds_start": 170,
"cds_end": null,
"cds_length": 3768,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 4203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.221A>G",
"hgvs_p": "p.Gln74Arg",
"transcript": "NM_001135040.3",
"protein_id": "NP_001128512.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 1253,
"cds_start": 221,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 4380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Gln57Arg",
"transcript": "NM_001190836.2",
"protein_id": "NP_001177765.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1236,
"cds_start": 170,
"cds_end": null,
"cds_length": 3711,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 4146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.242A>G",
"hgvs_p": "p.Gln81Arg",
"transcript": "ENST00000458655.5",
"protein_id": "ENSP00000414315.1",
"transcript_support_level": 4,
"aa_start": 81,
"aa_end": null,
"aa_length": 185,
"cds_start": 242,
"cds_end": null,
"cds_length": 560,
"cdna_start": 247,
"cdna_end": null,
"cdna_length": 565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.233A>G",
"hgvs_p": "p.Gln78Arg",
"transcript": "ENST00000417090.1",
"protein_id": "ENSP00000402509.1",
"transcript_support_level": 4,
"aa_start": 78,
"aa_end": null,
"aa_length": 134,
"cds_start": 233,
"cds_end": null,
"cds_length": 405,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Gln57Arg",
"transcript": "ENST00000454119.5",
"protein_id": "ENSP00000404038.1",
"transcript_support_level": 5,
"aa_start": 57,
"aa_end": null,
"aa_length": 120,
"cds_start": 170,
"cds_end": null,
"cds_length": 364,
"cdna_start": 433,
"cdna_end": null,
"cdna_length": 627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Gln57Arg",
"transcript": "ENST00000437375.1",
"protein_id": "ENSP00000395312.1",
"transcript_support_level": 4,
"aa_start": 57,
"aa_end": null,
"aa_length": 86,
"cds_start": 170,
"cds_end": null,
"cds_length": 262,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Gln57Arg",
"transcript": "ENST00000413111.5",
"protein_id": "ENSP00000413268.1",
"transcript_support_level": 4,
"aa_start": 57,
"aa_end": null,
"aa_length": 75,
"cds_start": 170,
"cds_end": null,
"cds_length": 228,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Gln57Arg",
"transcript": "ENST00000421392.1",
"protein_id": "ENSP00000409363.1",
"transcript_support_level": 4,
"aa_start": 57,
"aa_end": null,
"aa_length": 75,
"cds_start": 170,
"cds_end": null,
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"cdna_start": 484,
"cdna_end": null,
"cdna_length": 542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Gln57Arg",
"transcript": "ENST00000440727.1",
"protein_id": "ENSP00000400059.1",
"transcript_support_level": 4,
"aa_start": 57,
"aa_end": null,
"aa_length": 63,
"cds_start": 170,
"cds_end": null,
"cds_length": 192,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 521,
"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": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "n.170A>G",
"hgvs_p": null,
"transcript": "ENST00000434055.5",
"protein_id": "ENSP00000416711.1",
"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": 4229,
"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": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "n.261A>G",
"hgvs_p": null,
"transcript": "NR_033935.2",
"protein_id": null,
"transcript_support_level": null,
"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": 4229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.*129A>G",
"hgvs_p": null,
"transcript": "ENST00000449655.1",
"protein_id": "ENSP00000407484.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 12,
"cds_start": -4,
"cds_end": null,
"cds_length": 41,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"dbsnp": "rs72466487",
"frequency_reference_population": 6.840441e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84044e-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": 0.7265517115592957,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.638,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8578,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.922,
"phylop100way_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM1",
"PM2",
"PM5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000628224.3",
"gene_symbol": "DCTN1",
"hgnc_id": 2711,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.221A>G",
"hgvs_p": "p.Gln74Arg"
}
],
"clinvar_disease": " distal hereditary motor, type 7B,Amyotrophic lateral sclerosis type 1,Neuronopathy,Perry syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Amyotrophic lateral sclerosis type 1;Neuronopathy, distal hereditary motor, type 7B;Perry syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}