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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: 7-869482-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=869482&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 869482,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001367651.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2114A>G",
"hgvs_p": "p.Asn705Ser",
"transcript": "NM_001130965.3",
"protein_id": "NP_001124437.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 785,
"cds_start": 2114,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 2163,
"cdna_end": null,
"cdna_length": 4010,
"mane_select": "ENST00000401592.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130965.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2114A>G",
"hgvs_p": "p.Asn705Ser",
"transcript": "ENST00000401592.6",
"protein_id": "ENSP00000384015.1",
"transcript_support_level": 1,
"aa_start": 705,
"aa_end": null,
"aa_length": 785,
"cds_start": 2114,
"cds_end": null,
"cds_length": 2358,
"cdna_start": 2163,
"cdna_end": null,
"cdna_length": 4010,
"mane_select": "NM_001130965.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401592.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.1889A>G",
"hgvs_p": "p.Asn630Ser",
"transcript": "ENST00000429178.5",
"protein_id": "ENSP00000409909.1",
"transcript_support_level": 1,
"aa_start": 630,
"aa_end": null,
"aa_length": 710,
"cds_start": 1889,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 1889,
"cdna_end": null,
"cdna_length": 3701,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429178.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "n.2223A>G",
"hgvs_p": null,
"transcript": "ENST00000475971.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 4038,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000475971.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2771A>G",
"hgvs_p": "p.Asn924Ser",
"transcript": "ENST00000963118.1",
"protein_id": "ENSP00000633177.1",
"transcript_support_level": null,
"aa_start": 924,
"aa_end": null,
"aa_length": 1004,
"cds_start": 2771,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 2824,
"cdna_end": null,
"cdna_length": 4637,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963118.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2738A>G",
"hgvs_p": "p.Asn913Ser",
"transcript": "ENST00000963093.1",
"protein_id": "ENSP00000633151.1",
"transcript_support_level": null,
"aa_start": 913,
"aa_end": null,
"aa_length": 993,
"cds_start": 2738,
"cds_end": null,
"cds_length": 2982,
"cdna_start": 2798,
"cdna_end": null,
"cdna_length": 4613,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963093.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2735A>G",
"hgvs_p": "p.Asn912Ser",
"transcript": "ENST00000963103.1",
"protein_id": "ENSP00000633162.1",
"transcript_support_level": null,
"aa_start": 912,
"aa_end": null,
"aa_length": 992,
"cds_start": 2735,
"cds_end": null,
"cds_length": 2979,
"cdna_start": 2793,
"cdna_end": null,
"cdna_length": 4607,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963103.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2690A>G",
"hgvs_p": "p.Asn897Ser",
"transcript": "ENST00000963140.1",
"protein_id": "ENSP00000633199.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 977,
"cds_start": 2690,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 2740,
"cdna_end": null,
"cdna_length": 4548,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963140.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2687A>G",
"hgvs_p": "p.Asn896Ser",
"transcript": "ENST00000963135.1",
"protein_id": "ENSP00000633194.1",
"transcript_support_level": null,
"aa_start": 896,
"aa_end": null,
"aa_length": 976,
"cds_start": 2687,
"cds_end": null,
"cds_length": 2931,
"cdna_start": 2734,
"cdna_end": null,
"cdna_length": 4549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963135.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2663A>G",
"hgvs_p": "p.Asn888Ser",
"transcript": "ENST00000963074.1",
"protein_id": "ENSP00000633133.1",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 968,
"cds_start": 2663,
"cds_end": null,
"cds_length": 2907,
"cdna_start": 2737,
"cdna_end": null,
"cdna_length": 4562,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963074.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2660A>G",
"hgvs_p": "p.Asn887Ser",
"transcript": "ENST00000963082.1",
"protein_id": "ENSP00000633141.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 967,
"cds_start": 2660,
"cds_end": null,
"cds_length": 2904,
"cdna_start": 2727,
"cdna_end": null,
"cdna_length": 4542,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963082.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2654A>G",
"hgvs_p": "p.Asn885Ser",
"transcript": "ENST00000963107.1",
"protein_id": "ENSP00000633166.1",
"transcript_support_level": null,
"aa_start": 885,
"aa_end": null,
"aa_length": 965,
"cds_start": 2654,
"cds_end": null,
"cds_length": 2898,
"cdna_start": 2703,
"cdna_end": null,
"cdna_length": 4524,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963107.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2627A>G",
"hgvs_p": "p.Asn876Ser",
"transcript": "ENST00000963079.1",
"protein_id": "ENSP00000633138.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 956,
"cds_start": 2627,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 2693,
"cdna_end": null,
"cdna_length": 4516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963079.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2624A>G",
"hgvs_p": "p.Asn875Ser",
"transcript": "ENST00000881164.1",
"protein_id": "ENSP00000551223.1",
"transcript_support_level": null,
"aa_start": 875,
"aa_end": null,
"aa_length": 955,
"cds_start": 2624,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 2675,
"cdna_end": null,
"cdna_length": 4490,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881164.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2594A>G",
"hgvs_p": "p.Asn865Ser",
"transcript": "ENST00000881168.1",
"protein_id": "ENSP00000551227.1",
"transcript_support_level": null,
"aa_start": 865,
"aa_end": null,
"aa_length": 945,
"cds_start": 2594,
"cds_end": null,
"cds_length": 2838,
"cdna_start": 2645,
"cdna_end": null,
"cdna_length": 4459,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881168.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2660A>G",
"hgvs_p": "p.Asn887Ser",
"transcript": "ENST00000963137.1",
"protein_id": "ENSP00000633196.1",
"transcript_support_level": null,
"aa_start": 887,
"aa_end": null,
"aa_length": 936,
"cds_start": 2660,
"cds_end": null,
"cds_length": 2811,
"cdna_start": 2710,
"cdna_end": null,
"cdna_length": 4428,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963137.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2561A>G",
"hgvs_p": "p.Asn854Ser",
"transcript": "ENST00000963102.1",
"protein_id": "ENSP00000633161.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 934,
"cds_start": 2561,
"cds_end": null,
"cds_length": 2805,
"cdna_start": 2619,
"cdna_end": null,
"cdna_length": 4434,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963102.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2528A>G",
"hgvs_p": "p.Asn843Ser",
"transcript": "NM_001367651.1",
"protein_id": "NP_001354580.1",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 923,
"cds_start": 2528,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 2603,
"cdna_end": null,
"cdna_length": 4450,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367651.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2528A>G",
"hgvs_p": "p.Asn843Ser",
"transcript": "ENST00000963124.1",
"protein_id": "ENSP00000633183.1",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 923,
"cds_start": 2528,
"cds_end": null,
"cds_length": 2772,
"cdna_start": 2578,
"cdna_end": null,
"cdna_length": 4393,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963124.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2525A>G",
"hgvs_p": "p.Asn842Ser",
"transcript": "ENST00000963113.1",
"protein_id": "ENSP00000633172.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 922,
"cds_start": 2525,
"cds_end": null,
"cds_length": 2769,
"cdna_start": 2576,
"cdna_end": null,
"cdna_length": 4391,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963113.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2507A>G",
"hgvs_p": "p.Asn836Ser",
"transcript": "NM_001367705.1",
"protein_id": "NP_001354634.1",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 916,
"cds_start": 2507,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 2558,
"cdna_end": null,
"cdna_length": 4405,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367705.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"hgvs_c": "c.2504A>G",
"hgvs_p": "p.Asn835Ser",
"transcript": "NM_001367678.1",
"protein_id": "NP_001354607.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 915,
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"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1059,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007060177.1"
}
],
"gene_symbol": "SUN1",
"gene_hgnc_id": 18587,
"dbsnp": "rs138051124",
"frequency_reference_population": 0.000886104,
"hom_count_reference_population": 15,
"allele_count_reference_population": 1430,
"gnomad_exomes_af": 0.000453624,
"gnomad_genomes_af": 0.00503797,
"gnomad_exomes_ac": 663,
"gnomad_genomes_ac": 767,
"gnomad_exomes_homalt": 9,
"gnomad_genomes_homalt": 6,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.009526759386062622,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.169,
"revel_prediction": "Benign",
"alphamissense_score": 0.0809,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.137,
"phylop100way_prediction": "Uncertain_significance",
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS1,BS2",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001367651.1",
"gene_symbol": "SUN1",
"hgnc_id": 18587,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2528A>G",
"hgvs_p": "p.Asn843Ser"
},
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "XR_007060177.1",
"gene_symbol": "LOC124901568",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.282-1789T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Emery-Dreifuss muscular dystrophy,SUN1-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "Emery-Dreifuss muscular dystrophy|SUN1-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}