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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: 2-74368798-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=74368798&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 74368798,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000628224.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.1784G>A",
"hgvs_p": "p.Ser595Asn",
"transcript": "NM_004082.5",
"protein_id": "NP_004073.2",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 1278,
"cds_start": 1784,
"cds_end": null,
"cds_length": 3837,
"cdna_start": 2058,
"cdna_end": null,
"cdna_length": 4455,
"mane_select": "ENST00000628224.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.1784G>A",
"hgvs_p": "p.Ser595Asn",
"transcript": "ENST00000628224.3",
"protein_id": "ENSP00000487279.2",
"transcript_support_level": 5,
"aa_start": 595,
"aa_end": null,
"aa_length": 1278,
"cds_start": 1784,
"cds_end": null,
"cds_length": 3837,
"cdna_start": 2058,
"cdna_end": null,
"cdna_length": 4455,
"mane_select": "NM_004082.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.1784G>A",
"hgvs_p": "p.Ser595Asn",
"transcript": "ENST00000361874.8",
"protein_id": "ENSP00000354791.4",
"transcript_support_level": 1,
"aa_start": 595,
"aa_end": null,
"aa_length": 1273,
"cds_start": 1784,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 2102,
"cdna_end": null,
"cdna_length": 4485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.1724G>A",
"hgvs_p": "p.Ser575Asn",
"transcript": "ENST00000409567.7",
"protein_id": "ENSP00000386843.3",
"transcript_support_level": 1,
"aa_start": 575,
"aa_end": null,
"aa_length": 1253,
"cds_start": 1724,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 1986,
"cdna_end": null,
"cdna_length": 4024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.1673G>A",
"hgvs_p": "p.Ser558Asn",
"transcript": "ENST00000409240.5",
"protein_id": "ENSP00000386406.1",
"transcript_support_level": 1,
"aa_start": 558,
"aa_end": null,
"aa_length": 1236,
"cds_start": 1673,
"cds_end": null,
"cds_length": 3711,
"cdna_start": 1985,
"cdna_end": null,
"cdna_length": 4365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.1382G>A",
"hgvs_p": "p.Ser461Asn",
"transcript": "ENST00000409438.5",
"protein_id": "ENSP00000387270.1",
"transcript_support_level": 1,
"aa_start": 461,
"aa_end": null,
"aa_length": 1139,
"cds_start": 1382,
"cds_end": null,
"cds_length": 3420,
"cdna_start": 1765,
"cdna_end": null,
"cdna_length": 4145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.1763G>A",
"hgvs_p": "p.Ser588Asn",
"transcript": "NM_001190837.2",
"protein_id": "NP_001177766.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 1271,
"cds_start": 1763,
"cds_end": null,
"cds_length": 3816,
"cdna_start": 2037,
"cdna_end": null,
"cdna_length": 4434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.1763G>A",
"hgvs_p": "p.Ser588Asn",
"transcript": "ENST00000394003.7",
"protein_id": "ENSP00000377571.3",
"transcript_support_level": 5,
"aa_start": 588,
"aa_end": null,
"aa_length": 1271,
"cds_start": 1763,
"cds_end": null,
"cds_length": 3816,
"cdna_start": 2081,
"cdna_end": null,
"cdna_length": 4479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.1733G>A",
"hgvs_p": "p.Ser578Asn",
"transcript": "NM_001378991.1",
"protein_id": "NP_001365920.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 1261,
"cds_start": 1733,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 1824,
"cdna_end": null,
"cdna_length": 4221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.1733G>A",
"hgvs_p": "p.Ser578Asn",
"transcript": "ENST00000680606.1",
"protein_id": "ENSP00000505612.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 1261,
"cds_start": 1733,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 1824,
"cdna_end": null,
"cdna_length": 4221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.1733G>A",
"hgvs_p": "p.Ser578Asn",
"transcript": "ENST00000409868.5",
"protein_id": "ENSP00000387327.1",
"transcript_support_level": 5,
"aa_start": 578,
"aa_end": null,
"aa_length": 1256,
"cds_start": 1733,
"cds_end": null,
"cds_length": 3771,
"cdna_start": 1823,
"cdna_end": null,
"cdna_length": 4202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.1715G>A",
"hgvs_p": "p.Ser572Asn",
"transcript": "NM_001378992.1",
"protein_id": "NP_001365921.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 1255,
"cds_start": 1715,
"cds_end": null,
"cds_length": 3768,
"cdna_start": 1806,
"cdna_end": null,
"cdna_length": 4203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.1724G>A",
"hgvs_p": "p.Ser575Asn",
"transcript": "NM_001135040.3",
"protein_id": "NP_001128512.1",
"transcript_support_level": null,
"aa_start": 575,
"aa_end": null,
"aa_length": 1253,
"cds_start": 1724,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 1998,
"cdna_end": null,
"cdna_length": 4380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.1673G>A",
"hgvs_p": "p.Ser558Asn",
"transcript": "NM_001190836.2",
"protein_id": "NP_001177765.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 1236,
"cds_start": 1673,
"cds_end": null,
"cds_length": 3711,
"cdna_start": 1764,
"cdna_end": null,
"cdna_length": 4146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.1382G>A",
"hgvs_p": "p.Ser461Asn",
"transcript": "NM_023019.4",
"protein_id": "NP_075408.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 1144,
"cds_start": 1382,
"cds_end": null,
"cds_length": 3435,
"cdna_start": 1697,
"cdna_end": null,
"cdna_length": 4094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.1382G>A",
"hgvs_p": "p.Ser461Asn",
"transcript": "ENST00000633691.1",
"protein_id": "ENSP00000487724.1",
"transcript_support_level": 5,
"aa_start": 461,
"aa_end": null,
"aa_length": 1144,
"cds_start": 1382,
"cds_end": null,
"cds_length": 3435,
"cdna_start": 1765,
"cdna_end": null,
"cdna_length": 4160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.1382G>A",
"hgvs_p": "p.Ser461Asn",
"transcript": "NM_001135041.3",
"protein_id": "NP_001128513.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 1139,
"cds_start": 1382,
"cds_end": null,
"cds_length": 3420,
"cdna_start": 1697,
"cdna_end": null,
"cdna_length": 4079,
"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": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "n.1673G>A",
"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": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "n.2005G>A",
"hgvs_p": null,
"transcript": "ENST00000466110.5",
"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": 5414,
"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": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "n.1764G>A",
"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": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "n.96+502G>A",
"hgvs_p": null,
"transcript": "ENST00000497666.1",
"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": 479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"dbsnp": "rs1243051229",
"frequency_reference_population": 0.0000018585495,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 6.84045e-7,
"gnomad_genomes_af": 0.0000131346,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6031911969184875,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.324,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.403,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.973,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.05,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000628224.3",
"gene_symbol": "DCTN1",
"hgnc_id": 2711,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1784G>A",
"hgvs_p": "p.Ser595Asn"
}
],
"clinvar_disease": " distal hereditary motor, type 7B,Amyotrophic lateral sclerosis type 1,Neuronopathy,Perry syndrome,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Amyotrophic lateral sclerosis type 1;Perry syndrome;Neuronopathy, distal hereditary motor, type 7B|not specified|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}