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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: 22-50092072-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50092072&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 50092072,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000262794.10",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOV10L1",
"gene_hgnc_id": 7201,
"hgvs_c": "c.169A>T",
"hgvs_p": "p.Met57Leu",
"transcript": "NM_018995.3",
"protein_id": "NP_061868.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1211,
"cds_start": 169,
"cds_end": null,
"cds_length": 3636,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 3957,
"mane_select": "ENST00000262794.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOV10L1",
"gene_hgnc_id": 7201,
"hgvs_c": "c.169A>T",
"hgvs_p": "p.Met57Leu",
"transcript": "ENST00000262794.10",
"protein_id": "ENSP00000262794.5",
"transcript_support_level": 1,
"aa_start": 57,
"aa_end": null,
"aa_length": 1211,
"cds_start": 169,
"cds_end": null,
"cds_length": 3636,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 3957,
"mane_select": "NM_018995.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOV10L1",
"gene_hgnc_id": 7201,
"hgvs_c": "c.169A>T",
"hgvs_p": "p.Met57Leu",
"transcript": "ENST00000395858.7",
"protein_id": "ENSP00000379199.3",
"transcript_support_level": 1,
"aa_start": 57,
"aa_end": null,
"aa_length": 1165,
"cds_start": 169,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 193,
"cdna_end": null,
"cdna_length": 3763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOV10L1",
"gene_hgnc_id": 7201,
"hgvs_c": "n.*325A>T",
"hgvs_p": null,
"transcript": "ENST00000395854.6",
"protein_id": "ENSP00000379195.2",
"transcript_support_level": 1,
"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": 1044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOV10L1",
"gene_hgnc_id": 7201,
"hgvs_c": "n.*1275A>T",
"hgvs_p": null,
"transcript": "ENST00000419054.5",
"protein_id": "ENSP00000410957.1",
"transcript_support_level": 1,
"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": 2003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOV10L1",
"gene_hgnc_id": 7201,
"hgvs_c": "n.*325A>T",
"hgvs_p": null,
"transcript": "ENST00000395854.6",
"protein_id": "ENSP00000379195.2",
"transcript_support_level": 1,
"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": 1044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOV10L1",
"gene_hgnc_id": 7201,
"hgvs_c": "n.*1275A>T",
"hgvs_p": null,
"transcript": "ENST00000419054.5",
"protein_id": "ENSP00000410957.1",
"transcript_support_level": 1,
"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": 2003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOV10L1",
"gene_hgnc_id": 7201,
"hgvs_c": "c.169A>T",
"hgvs_p": "p.Met57Leu",
"transcript": "NM_001164104.2",
"protein_id": "NP_001157576.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1165,
"cds_start": 169,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 3819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOV10L1",
"gene_hgnc_id": 7201,
"hgvs_c": "c.109A>T",
"hgvs_p": "p.Met37Leu",
"transcript": "NM_001164105.2",
"protein_id": "NP_001157577.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 1165,
"cds_start": 109,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 579,
"cdna_end": null,
"cdna_length": 4192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOV10L1",
"gene_hgnc_id": 7201,
"hgvs_c": "c.109A>T",
"hgvs_p": "p.Met37Leu",
"transcript": "ENST00000540615.5",
"protein_id": "ENSP00000438542.1",
"transcript_support_level": 2,
"aa_start": 37,
"aa_end": null,
"aa_length": 1165,
"cds_start": 109,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 329,
"cdna_end": null,
"cdna_length": 3941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOV10L1",
"gene_hgnc_id": 7201,
"hgvs_c": "c.169A>T",
"hgvs_p": "p.Met57Leu",
"transcript": "XM_011530696.2",
"protein_id": "XP_011528998.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1256,
"cds_start": 169,
"cds_end": null,
"cds_length": 3771,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 4092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOV10L1",
"gene_hgnc_id": 7201,
"hgvs_c": "c.109A>T",
"hgvs_p": "p.Met37Leu",
"transcript": "XM_011530697.2",
"protein_id": "XP_011528999.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 1236,
"cds_start": 109,
"cds_end": null,
"cds_length": 3711,
"cdna_start": 579,
"cdna_end": null,
"cdna_length": 4419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOV10L1",
"gene_hgnc_id": 7201,
"hgvs_c": "c.169A>T",
"hgvs_p": "p.Met57Leu",
"transcript": "XM_017028833.2",
"protein_id": "XP_016884322.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1210,
"cds_start": 169,
"cds_end": null,
"cds_length": 3633,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 3954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOV10L1",
"gene_hgnc_id": 7201,
"hgvs_c": "c.169A>T",
"hgvs_p": "p.Met57Leu",
"transcript": "XM_011530698.2",
"protein_id": "XP_011529000.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1209,
"cds_start": 169,
"cds_end": null,
"cds_length": 3630,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 3951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOV10L1",
"gene_hgnc_id": 7201,
"hgvs_c": "c.13A>T",
"hgvs_p": "p.Met5Leu",
"transcript": "XM_011530699.2",
"protein_id": "XP_011529001.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 1204,
"cds_start": 13,
"cds_end": null,
"cds_length": 3615,
"cdna_start": 223,
"cdna_end": null,
"cdna_length": 4063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOV10L1",
"gene_hgnc_id": 7201,
"hgvs_c": "c.13A>T",
"hgvs_p": "p.Met5Leu",
"transcript": "XM_011530700.3",
"protein_id": "XP_011529002.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 1204,
"cds_start": 13,
"cds_end": null,
"cds_length": 3615,
"cdna_start": 597,
"cdna_end": null,
"cdna_length": 4437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOV10L1",
"gene_hgnc_id": 7201,
"hgvs_c": "c.109A>T",
"hgvs_p": "p.Met37Leu",
"transcript": "XM_005261923.5",
"protein_id": "XP_005261980.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 1191,
"cds_start": 109,
"cds_end": null,
"cds_length": 3576,
"cdna_start": 579,
"cdna_end": null,
"cdna_length": 4284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOV10L1",
"gene_hgnc_id": 7201,
"hgvs_c": "c.169A>T",
"hgvs_p": "p.Met57Leu",
"transcript": "XM_011530701.1",
"protein_id": "XP_011529003.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 1074,
"cds_start": 169,
"cds_end": null,
"cds_length": 3225,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 3390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOV10L1",
"gene_hgnc_id": 7201,
"hgvs_c": "c.169A>T",
"hgvs_p": "p.Met57Leu",
"transcript": "XM_047441414.1",
"protein_id": "XP_047297370.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 880,
"cds_start": 169,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 2819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOV10L1",
"gene_hgnc_id": 7201,
"hgvs_c": "c.169A>T",
"hgvs_p": "p.Met57Leu",
"transcript": "XM_017028834.2",
"protein_id": "XP_016884323.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 738,
"cds_start": 169,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 2626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOV10L1",
"gene_hgnc_id": 7201,
"hgvs_c": "c.169A>T",
"hgvs_p": "p.Met57Leu",
"transcript": "XM_011530704.1",
"protein_id": "XP_011529006.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 690,
"cds_start": 169,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 2236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOV10L1",
"gene_hgnc_id": 7201,
"hgvs_c": "c.169A>T",
"hgvs_p": "p.Met57Leu",
"transcript": "XM_017028837.1",
"protein_id": "XP_016884326.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 611,
"cds_start": 169,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 252,
"cdna_end": null,
"cdna_length": 3230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MOV10L1",
"gene_hgnc_id": 7201,
"hgvs_c": "n.214A>T",
"hgvs_p": null,
"transcript": "ENST00000475190.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
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{
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],
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"computational_score_selected": 0.0022339820861816406,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.178,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"spliceai_max_prediction": "Benign",
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"acmg_score": -12,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000262794.10",
"gene_symbol": "MOV10L1",
"hgnc_id": 7201,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.169A>T",
"hgvs_p": "p.Met57Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}