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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: 18-50805183-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=50805183&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 50805183,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000398439.8",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRO",
"gene_hgnc_id": 24121,
"hgvs_c": "c.400A>G",
"hgvs_p": "p.Thr134Ala",
"transcript": "NM_031939.6",
"protein_id": "NP_114145.2",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 248,
"cds_start": 400,
"cds_end": null,
"cds_length": 747,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 5200,
"mane_select": "ENST00000398439.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRO",
"gene_hgnc_id": 24121,
"hgvs_c": "c.400A>G",
"hgvs_p": "p.Thr134Ala",
"transcript": "ENST00000398439.8",
"protein_id": "ENSP00000381465.2",
"transcript_support_level": 1,
"aa_start": 134,
"aa_end": null,
"aa_length": 248,
"cds_start": 400,
"cds_end": null,
"cds_length": 747,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 5200,
"mane_select": "NM_031939.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRO",
"gene_hgnc_id": 24121,
"hgvs_c": "c.400A>G",
"hgvs_p": "p.Thr134Ala",
"transcript": "ENST00000256425.6",
"protein_id": "ENSP00000256425.2",
"transcript_support_level": 1,
"aa_start": 134,
"aa_end": null,
"aa_length": 248,
"cds_start": 400,
"cds_end": null,
"cds_length": 747,
"cdna_start": 602,
"cdna_end": null,
"cdna_length": 5166,
"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": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRO",
"gene_hgnc_id": 24121,
"hgvs_c": "n.*212A>G",
"hgvs_p": null,
"transcript": "ENST00000585524.5",
"protein_id": "ENSP00000465783.1",
"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": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRO",
"gene_hgnc_id": 24121,
"hgvs_c": "n.*212A>G",
"hgvs_p": null,
"transcript": "ENST00000585524.5",
"protein_id": "ENSP00000465783.1",
"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": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRO",
"gene_hgnc_id": 24121,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Thr148Ala",
"transcript": "NM_001127176.3",
"protein_id": "NP_001120648.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 262,
"cds_start": 442,
"cds_end": null,
"cds_length": 789,
"cdna_start": 543,
"cdna_end": null,
"cdna_length": 5097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRO",
"gene_hgnc_id": 24121,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Thr148Ala",
"transcript": "ENST00000436348.6",
"protein_id": "ENSP00000397900.1",
"transcript_support_level": 5,
"aa_start": 148,
"aa_end": null,
"aa_length": 262,
"cds_start": 442,
"cds_end": null,
"cds_length": 789,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 1125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRO",
"gene_hgnc_id": 24121,
"hgvs_c": "c.400A>G",
"hgvs_p": "p.Thr134Ala",
"transcript": "NM_001369508.2",
"protein_id": "NP_001356437.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 248,
"cds_start": 400,
"cds_end": null,
"cds_length": 747,
"cdna_start": 598,
"cdna_end": null,
"cdna_length": 5152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRO",
"gene_hgnc_id": 24121,
"hgvs_c": "c.400A>G",
"hgvs_p": "p.Thr134Ala",
"transcript": "NM_001369510.2",
"protein_id": "NP_001356439.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 248,
"cds_start": 400,
"cds_end": null,
"cds_length": 747,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 5030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRO",
"gene_hgnc_id": 24121,
"hgvs_c": "c.400A>G",
"hgvs_p": "p.Thr134Ala",
"transcript": "ENST00000428869.6",
"protein_id": "ENSP00000409509.2",
"transcript_support_level": 5,
"aa_start": 134,
"aa_end": null,
"aa_length": 248,
"cds_start": 400,
"cds_end": null,
"cds_length": 747,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 1966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRO",
"gene_hgnc_id": 24121,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Thr148Ala",
"transcript": "NM_001127175.3",
"protein_id": "NP_001120647.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 210,
"cds_start": 442,
"cds_end": null,
"cds_length": 633,
"cdna_start": 543,
"cdna_end": null,
"cdna_length": 4941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRO",
"gene_hgnc_id": 24121,
"hgvs_c": "c.442A>G",
"hgvs_p": "p.Thr148Ala",
"transcript": "ENST00000431965.6",
"protein_id": "ENSP00000392614.1",
"transcript_support_level": 2,
"aa_start": 148,
"aa_end": null,
"aa_length": 210,
"cds_start": 442,
"cds_end": null,
"cds_length": 633,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 1657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRO",
"gene_hgnc_id": 24121,
"hgvs_c": "c.400A>G",
"hgvs_p": "p.Thr134Ala",
"transcript": "NM_001127174.3",
"protein_id": "NP_001120646.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 196,
"cds_start": 400,
"cds_end": null,
"cds_length": 591,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 4874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRO",
"gene_hgnc_id": 24121,
"hgvs_c": "c.400A>G",
"hgvs_p": "p.Thr134Ala",
"transcript": "NM_001369511.2",
"protein_id": "NP_001356440.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 196,
"cds_start": 400,
"cds_end": null,
"cds_length": 591,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 4922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRO",
"gene_hgnc_id": 24121,
"hgvs_c": "c.400A>G",
"hgvs_p": "p.Thr134Ala",
"transcript": "NM_001369515.2",
"protein_id": "NP_001356444.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 196,
"cds_start": 400,
"cds_end": null,
"cds_length": 591,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 5044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRO",
"gene_hgnc_id": 24121,
"hgvs_c": "c.400A>G",
"hgvs_p": "p.Thr134Ala",
"transcript": "ENST00000588444.5",
"protein_id": "ENSP00000465653.1",
"transcript_support_level": 3,
"aa_start": 134,
"aa_end": null,
"aa_length": 196,
"cds_start": 400,
"cds_end": null,
"cds_length": 591,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRO",
"gene_hgnc_id": 24121,
"hgvs_c": "c.400A>G",
"hgvs_p": "p.Thr134Ala",
"transcript": "ENST00000592966.5",
"protein_id": "ENSP00000467427.1",
"transcript_support_level": 4,
"aa_start": 134,
"aa_end": null,
"aa_length": 178,
"cds_start": 400,
"cds_end": null,
"cds_length": 537,
"cdna_start": 660,
"cdna_end": null,
"cdna_length": 797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRO",
"gene_hgnc_id": 24121,
"hgvs_c": "c.400A>G",
"hgvs_p": "p.Thr134Ala",
"transcript": "XM_017026035.3",
"protein_id": "XP_016881524.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 248,
"cds_start": 400,
"cds_end": null,
"cds_length": 747,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 5172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRO",
"gene_hgnc_id": 24121,
"hgvs_c": "c.400A>G",
"hgvs_p": "p.Thr134Ala",
"transcript": "XM_047437882.1",
"protein_id": "XP_047293838.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 248,
"cds_start": 400,
"cds_end": null,
"cds_length": 747,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 5078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRO",
"gene_hgnc_id": 24121,
"hgvs_c": "c.400A>G",
"hgvs_p": "p.Thr134Ala",
"transcript": "XM_011526226.4",
"protein_id": "XP_011524528.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 196,
"cds_start": 400,
"cds_end": null,
"cds_length": 591,
"cdna_start": 598,
"cdna_end": null,
"cdna_length": 4996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRO",
"gene_hgnc_id": 24121,
"hgvs_c": "c.202A>G",
"hgvs_p": "p.Thr68Ala",
"transcript": "XM_047437883.1",
"protein_id": "XP_047293839.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 182,
"cds_start": 202,
"cds_end": null,
"cds_length": 549,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 5049,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRO",
"gene_hgnc_id": 24121,
"hgvs_c": "n.200A>G",
"hgvs_p": null,
"transcript": "ENST00000587291.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 482,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRO",
"gene_hgnc_id": 24121,
"hgvs_c": "n.*192A>G",
"hgvs_p": null,
"transcript": "ENST00000590988.1",
"protein_id": "ENSP00000466218.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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{
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],
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"computational_score_selected": 0.0032892227172851562,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.29,
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -12,
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"acmg_by_gene": [
{
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"criteria": [
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"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000398439.8",
"gene_symbol": "MRO",
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"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.400A>G",
"hgvs_p": "p.Thr134Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
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"custom_annotations": null
}
],
"message": null
}