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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: 5-96880229-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=96880229&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 96880229,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_022350.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP2",
"gene_hgnc_id": 29499,
"hgvs_c": "c.544A>G",
"hgvs_p": "p.Ser182Gly",
"transcript": "NM_022350.5",
"protein_id": "NP_071745.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 960,
"cds_start": 544,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000437043.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022350.5"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP2",
"gene_hgnc_id": 29499,
"hgvs_c": "c.544A>G",
"hgvs_p": "p.Ser182Gly",
"transcript": "ENST00000437043.8",
"protein_id": "ENSP00000400376.3",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 960,
"cds_start": 544,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022350.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437043.8"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP2",
"gene_hgnc_id": 29499,
"hgvs_c": "c.544A>G",
"hgvs_p": "p.Ser182Gly",
"transcript": "ENST00000379904.8",
"protein_id": "ENSP00000369235.4",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 915,
"cds_start": 544,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379904.8"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP2",
"gene_hgnc_id": 29499,
"hgvs_c": "c.544A>G",
"hgvs_p": "p.Ser182Gly",
"transcript": "ENST00000510309.1",
"protein_id": "ENSP00000425758.1",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 350,
"cds_start": 544,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510309.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP2",
"gene_hgnc_id": 29499,
"hgvs_c": "c.544A>G",
"hgvs_p": "p.Ser182Gly",
"transcript": "ENST00000851668.1",
"protein_id": "ENSP00000521727.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 967,
"cds_start": 544,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851668.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP2",
"gene_hgnc_id": 29499,
"hgvs_c": "c.544A>G",
"hgvs_p": "p.Ser182Gly",
"transcript": "NM_001130140.3",
"protein_id": "NP_001123612.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 960,
"cds_start": 544,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130140.3"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP2",
"gene_hgnc_id": 29499,
"hgvs_c": "c.544A>G",
"hgvs_p": "p.Ser182Gly",
"transcript": "ENST00000510373.6",
"protein_id": "ENSP00000421175.2",
"transcript_support_level": 2,
"aa_start": 182,
"aa_end": null,
"aa_length": 960,
"cds_start": 544,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510373.6"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP2",
"gene_hgnc_id": 29499,
"hgvs_c": "c.544A>G",
"hgvs_p": "p.Ser182Gly",
"transcript": "NM_001437802.1",
"protein_id": "NP_001424731.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 937,
"cds_start": 544,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001437802.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP2",
"gene_hgnc_id": 29499,
"hgvs_c": "c.544A>G",
"hgvs_p": "p.Ser182Gly",
"transcript": "NM_001438758.1",
"protein_id": "NP_001425687.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 937,
"cds_start": 544,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438758.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP2",
"gene_hgnc_id": 29499,
"hgvs_c": "c.544A>G",
"hgvs_p": "p.Ser182Gly",
"transcript": "ENST00000714228.1",
"protein_id": "ENSP00000519508.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 937,
"cds_start": 544,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714228.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP2",
"gene_hgnc_id": 29499,
"hgvs_c": "c.544A>G",
"hgvs_p": "p.Ser182Gly",
"transcript": "ENST00000508077.2",
"protein_id": "ENSP00000427573.2",
"transcript_support_level": 3,
"aa_start": 182,
"aa_end": null,
"aa_length": 916,
"cds_start": 544,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508077.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP2",
"gene_hgnc_id": 29499,
"hgvs_c": "c.544A>G",
"hgvs_p": "p.Ser182Gly",
"transcript": "ENST00000959439.1",
"protein_id": "ENSP00000629498.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 916,
"cds_start": 544,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959439.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP2",
"gene_hgnc_id": 29499,
"hgvs_c": "c.544A>G",
"hgvs_p": "p.Ser182Gly",
"transcript": "NM_001329229.2",
"protein_id": "NP_001316158.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 915,
"cds_start": 544,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329229.2"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP2",
"gene_hgnc_id": 29499,
"hgvs_c": "c.544A>G",
"hgvs_p": "p.Ser182Gly",
"transcript": "ENST00000959438.1",
"protein_id": "ENSP00000629497.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 893,
"cds_start": 544,
"cds_end": null,
"cds_length": 2682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959438.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP2",
"gene_hgnc_id": 29499,
"hgvs_c": "c.544A>G",
"hgvs_p": "p.Ser182Gly",
"transcript": "ENST00000851669.1",
"protein_id": "ENSP00000521728.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 892,
"cds_start": 544,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851669.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP2",
"gene_hgnc_id": 29499,
"hgvs_c": "c.544A>G",
"hgvs_p": "p.Ser182Gly",
"transcript": "NM_001329233.2",
"protein_id": "NP_001316162.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 350,
"cds_start": 544,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329233.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.-701-6557T>C",
"hgvs_p": null,
"transcript": "XM_011543484.3",
"protein_id": "XP_011541786.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 951,
"cds_start": null,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543484.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.-521-6557T>C",
"hgvs_p": null,
"transcript": "XM_011543485.3",
"protein_id": "XP_011541787.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 951,
"cds_start": null,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543485.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.-547-6851T>C",
"hgvs_p": null,
"transcript": "XM_017009581.2",
"protein_id": "XP_016865070.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 951,
"cds_start": null,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017009581.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.-705-6557T>C",
"hgvs_p": null,
"transcript": "XM_047417310.1",
"protein_id": "XP_047273266.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 948,
"cds_start": null,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417310.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.-705-6557T>C",
"hgvs_p": null,
"transcript": "XM_011543486.4",
"protein_id": "XP_011541788.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 941,
"cds_start": null,
"cds_end": null,
"cds_length": 2826,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543486.4"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERAP2",
"gene_hgnc_id": 29499,
"hgvs_c": "n.544A>G",
"hgvs_p": null,
"transcript": "ENST00000513084.5",
"protein_id": "ENSP00000421849.1",
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000513084.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_022350.5",
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"effects": [
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],
"inheritance_mode": "AR",
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{
"score": 1,
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"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000501338.6",
"gene_symbol": "ENSG00000247121",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1689-6851T>C",
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},
{
"score": 1,
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"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "XM_011543484.3",
"gene_symbol": "ERAP1",
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],
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}