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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: 16-75540054-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=75540054&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 75540054,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000568377.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "c.891G>A",
"hgvs_p": "p.Val297Val",
"transcript": "NM_001077418.3",
"protein_id": "NP_001070886.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 316,
"cds_start": 891,
"cds_end": null,
"cds_length": 951,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 4247,
"mane_select": "ENST00000258173.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "c.891G>A",
"hgvs_p": "p.Val297Val",
"transcript": "ENST00000258173.11",
"protein_id": "ENSP00000258173.5",
"transcript_support_level": 1,
"aa_start": 297,
"aa_end": null,
"aa_length": 316,
"cds_start": 891,
"cds_end": null,
"cds_length": 951,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 4247,
"mane_select": "NM_001077418.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "c.978G>A",
"hgvs_p": "p.Val326Val",
"transcript": "ENST00000568377.5",
"protein_id": "ENSP00000476267.1",
"transcript_support_level": 1,
"aa_start": 326,
"aa_end": null,
"aa_length": 345,
"cds_start": 978,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1017,
"cdna_end": null,
"cdna_length": 2920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "c.747G>A",
"hgvs_p": "p.Val249Val",
"transcript": "ENST00000565067.5",
"protein_id": "ENSP00000457254.1",
"transcript_support_level": 5,
"aa_start": 249,
"aa_end": null,
"aa_length": 268,
"cds_start": 747,
"cds_end": null,
"cds_length": 807,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 1078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "n.*693G>A",
"hgvs_p": null,
"transcript": "ENST00000562410.5",
"protein_id": "ENSP00000454582.1",
"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": 2991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "n.*271G>A",
"hgvs_p": null,
"transcript": "ENST00000570006.5",
"protein_id": "ENSP00000455520.1",
"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": 922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "n.*693G>A",
"hgvs_p": null,
"transcript": "ENST00000562410.5",
"protein_id": "ENSP00000454582.1",
"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": 2991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "n.*271G>A",
"hgvs_p": null,
"transcript": "ENST00000570006.5",
"protein_id": "ENSP00000455520.1",
"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": 922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000260092",
"gene_hgnc_id": null,
"hgvs_c": "n.157+2548G>A",
"hgvs_p": null,
"transcript": "ENST00000460606.1",
"protein_id": "ENSP00000457544.1",
"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": 2125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "c.1050G>A",
"hgvs_p": "p.Val350Val",
"transcript": "NM_001077416.2",
"protein_id": "NP_001070884.2",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 369,
"cds_start": 1050,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 3002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "c.576G>A",
"hgvs_p": "p.Val192Val",
"transcript": "ENST00000686680.1",
"protein_id": "ENSP00000508892.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 211,
"cds_start": 576,
"cds_end": null,
"cds_length": 636,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 2492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "c.543G>A",
"hgvs_p": "p.Val181Val",
"transcript": "ENST00000692689.1",
"protein_id": "ENSP00000509732.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 200,
"cds_start": 543,
"cds_end": null,
"cds_length": 603,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "c.519G>A",
"hgvs_p": "p.Val173Val",
"transcript": "ENST00000688195.1",
"protein_id": "ENSP00000510115.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 192,
"cds_start": 519,
"cds_end": null,
"cds_length": 579,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 2641,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "n.816G>A",
"hgvs_p": null,
"transcript": "ENST00000564318.1",
"protein_id": null,
"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": 2520,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "n.*212G>A",
"hgvs_p": null,
"transcript": "ENST00000688270.1",
"protein_id": "ENSP00000509823.1",
"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": 2879,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "n.*718G>A",
"hgvs_p": null,
"transcript": "ENST00000688618.1",
"protein_id": "ENSP00000509271.1",
"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": 2716,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "n.*998G>A",
"hgvs_p": null,
"transcript": "ENST00000689040.1",
"protein_id": "ENSP00000508573.1",
"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": 3062,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "n.*642G>A",
"hgvs_p": null,
"transcript": "ENST00000692097.1",
"protein_id": "ENSP00000509668.1",
"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": 2902,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "n.*1116G>A",
"hgvs_p": null,
"transcript": "ENST00000693457.1",
"protein_id": "ENSP00000508414.1",
"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": 3254,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "n.1057G>A",
"hgvs_p": null,
"transcript": "NR_074083.2",
"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": 4370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "c.*535G>A",
"hgvs_p": null,
"transcript": "ENST00000693682.1",
"protein_id": "ENSP00000508670.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 243,
"cds_start": -4,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "c.*525G>A",
"hgvs_p": null,
"transcript": "ENST00000685935.1",
"protein_id": "ENSP00000510128.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 106,
"cds_start": -4,
"cds_end": null,
"cds_length": 321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2543,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM231",
"gene_hgnc_id": 37234,
"hgvs_c": "n.*212G>A",
"hgvs_p": null,
"transcript": "ENST00000688270.1",
"protein_id": "ENSP00000509823.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
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"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BP6",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000568377.5",
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"effects": [
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"inheritance_mode": "AR",
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"hgvs_p": "p.Val326Val"
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{
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"BP6",
"BS1",
"BS2"
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"verdict": "Benign",
"transcript": "ENST00000460606.1",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": " type 11,Joubert syndrome 20,Meckel syndrome,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 B:3",
"phenotype_combined": "not specified|Joubert syndrome 20;Meckel syndrome, type 11",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}