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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: 2-74367400-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=74367400&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 74367400,
"ref": "A",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000628224.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.2205T>G",
"hgvs_p": "p.Leu735Leu",
"transcript": "NM_004082.5",
"protein_id": "NP_004073.2",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 1278,
"cds_start": 2205,
"cds_end": null,
"cds_length": 3837,
"cdna_start": 2479,
"cdna_end": null,
"cdna_length": 4455,
"mane_select": "ENST00000628224.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.2205T>G",
"hgvs_p": "p.Leu735Leu",
"transcript": "ENST00000628224.3",
"protein_id": "ENSP00000487279.2",
"transcript_support_level": 5,
"aa_start": 735,
"aa_end": null,
"aa_length": 1278,
"cds_start": 2205,
"cds_end": null,
"cds_length": 3837,
"cdna_start": 2479,
"cdna_end": null,
"cdna_length": 4455,
"mane_select": "NM_004082.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.2205T>G",
"hgvs_p": "p.Leu735Leu",
"transcript": "ENST00000361874.8",
"protein_id": "ENSP00000354791.4",
"transcript_support_level": 1,
"aa_start": 735,
"aa_end": null,
"aa_length": 1273,
"cds_start": 2205,
"cds_end": null,
"cds_length": 3822,
"cdna_start": 2523,
"cdna_end": null,
"cdna_length": 4485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.2145T>G",
"hgvs_p": "p.Leu715Leu",
"transcript": "ENST00000409567.7",
"protein_id": "ENSP00000386843.3",
"transcript_support_level": 1,
"aa_start": 715,
"aa_end": null,
"aa_length": 1253,
"cds_start": 2145,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 2407,
"cdna_end": null,
"cdna_length": 4024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.2094T>G",
"hgvs_p": "p.Leu698Leu",
"transcript": "ENST00000409240.5",
"protein_id": "ENSP00000386406.1",
"transcript_support_level": 1,
"aa_start": 698,
"aa_end": null,
"aa_length": 1236,
"cds_start": 2094,
"cds_end": null,
"cds_length": 3711,
"cdna_start": 2406,
"cdna_end": null,
"cdna_length": 4365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.1803T>G",
"hgvs_p": "p.Leu601Leu",
"transcript": "ENST00000409438.5",
"protein_id": "ENSP00000387270.1",
"transcript_support_level": 1,
"aa_start": 601,
"aa_end": null,
"aa_length": 1139,
"cds_start": 1803,
"cds_end": null,
"cds_length": 3420,
"cdna_start": 2186,
"cdna_end": null,
"cdna_length": 4145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.2184T>G",
"hgvs_p": "p.Leu728Leu",
"transcript": "NM_001190837.2",
"protein_id": "NP_001177766.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 1271,
"cds_start": 2184,
"cds_end": null,
"cds_length": 3816,
"cdna_start": 2458,
"cdna_end": null,
"cdna_length": 4434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.2184T>G",
"hgvs_p": "p.Leu728Leu",
"transcript": "ENST00000394003.7",
"protein_id": "ENSP00000377571.3",
"transcript_support_level": 5,
"aa_start": 728,
"aa_end": null,
"aa_length": 1271,
"cds_start": 2184,
"cds_end": null,
"cds_length": 3816,
"cdna_start": 2502,
"cdna_end": null,
"cdna_length": 4479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.2154T>G",
"hgvs_p": "p.Leu718Leu",
"transcript": "NM_001378991.1",
"protein_id": "NP_001365920.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 1261,
"cds_start": 2154,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 2245,
"cdna_end": null,
"cdna_length": 4221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.2154T>G",
"hgvs_p": "p.Leu718Leu",
"transcript": "ENST00000680606.1",
"protein_id": "ENSP00000505612.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 1261,
"cds_start": 2154,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 2245,
"cdna_end": null,
"cdna_length": 4221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.2154T>G",
"hgvs_p": "p.Leu718Leu",
"transcript": "ENST00000409868.5",
"protein_id": "ENSP00000387327.1",
"transcript_support_level": 5,
"aa_start": 718,
"aa_end": null,
"aa_length": 1256,
"cds_start": 2154,
"cds_end": null,
"cds_length": 3771,
"cdna_start": 2244,
"cdna_end": null,
"cdna_length": 4202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.2136T>G",
"hgvs_p": "p.Leu712Leu",
"transcript": "NM_001378992.1",
"protein_id": "NP_001365921.1",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
"aa_length": 1255,
"cds_start": 2136,
"cds_end": null,
"cds_length": 3768,
"cdna_start": 2227,
"cdna_end": null,
"cdna_length": 4203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.2145T>G",
"hgvs_p": "p.Leu715Leu",
"transcript": "NM_001135040.3",
"protein_id": "NP_001128512.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 1253,
"cds_start": 2145,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 2419,
"cdna_end": null,
"cdna_length": 4380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.2094T>G",
"hgvs_p": "p.Leu698Leu",
"transcript": "NM_001190836.2",
"protein_id": "NP_001177765.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 1236,
"cds_start": 2094,
"cds_end": null,
"cds_length": 3711,
"cdna_start": 2185,
"cdna_end": null,
"cdna_length": 4146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.1803T>G",
"hgvs_p": "p.Leu601Leu",
"transcript": "NM_023019.4",
"protein_id": "NP_075408.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 1144,
"cds_start": 1803,
"cds_end": null,
"cds_length": 3435,
"cdna_start": 2118,
"cdna_end": null,
"cdna_length": 4094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.1803T>G",
"hgvs_p": "p.Leu601Leu",
"transcript": "ENST00000633691.1",
"protein_id": "ENSP00000487724.1",
"transcript_support_level": 5,
"aa_start": 601,
"aa_end": null,
"aa_length": 1144,
"cds_start": 1803,
"cds_end": null,
"cds_length": 3435,
"cdna_start": 2186,
"cdna_end": null,
"cdna_length": 4160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "c.1803T>G",
"hgvs_p": "p.Leu601Leu",
"transcript": "NM_001135041.3",
"protein_id": "NP_001128513.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 1139,
"cds_start": 1803,
"cds_end": null,
"cds_length": 3420,
"cdna_start": 2118,
"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": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "n.2094T>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": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "n.3022T>G",
"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,
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"cdna_start": null,
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"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "n.233T>G",
"hgvs_p": null,
"transcript": "ENST00000495643.1",
"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": 673,
"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": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCTN1",
"gene_hgnc_id": 2711,
"hgvs_c": "n.2185T>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": 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+1900T>G",
"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": "rs773099597",
"frequency_reference_population": 0.0000464684,
"hom_count_reference_population": 0,
"allele_count_reference_population": 75,
"gnomad_exomes_af": 0.0000506197,
"gnomad_genomes_af": 0.00000657384,
"gnomad_exomes_ac": 74,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6600000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.06,
"phylop100way_prediction": "Benign",
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000628224.3",
"gene_symbol": "DCTN1",
"hgnc_id": 2711,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2205T>G",
"hgvs_p": "p.Leu735Leu"
}
],
"clinvar_disease": " distal hereditary motor, type 7B,Amyotrophic lateral sclerosis type 1,Inborn genetic diseases,Neuronopathy,Perry syndrome",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Amyotrophic lateral sclerosis type 1;Perry syndrome;Neuronopathy, distal hereditary motor, type 7B|Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}