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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: 3-97784981-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=97784981&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 97784981,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000463745.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL6",
"gene_hgnc_id": 13210,
"hgvs_c": "c.281T>C",
"hgvs_p": "p.Ile94Thr",
"transcript": "NM_001278293.3",
"protein_id": "NP_001265222.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 186,
"cds_start": 281,
"cds_end": null,
"cds_length": 561,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 3988,
"mane_select": "ENST00000463745.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL6",
"gene_hgnc_id": 13210,
"hgvs_c": "c.281T>C",
"hgvs_p": "p.Ile94Thr",
"transcript": "ENST00000463745.6",
"protein_id": "ENSP00000419619.1",
"transcript_support_level": 2,
"aa_start": 94,
"aa_end": null,
"aa_length": 186,
"cds_start": 281,
"cds_end": null,
"cds_length": 561,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 3988,
"mane_select": "NM_001278293.3",
"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": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL6",
"gene_hgnc_id": 13210,
"hgvs_c": "n.281T>C",
"hgvs_p": null,
"transcript": "ENST00000493990.5",
"protein_id": "ENSP00000418057.1",
"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": 1705,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL6",
"gene_hgnc_id": 13210,
"hgvs_c": "n.519T>C",
"hgvs_p": null,
"transcript": "ENST00000496713.1",
"protein_id": null,
"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": 851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL6",
"gene_hgnc_id": 13210,
"hgvs_c": "c.281T>C",
"hgvs_p": "p.Ile94Thr",
"transcript": "NM_001323513.2",
"protein_id": "NP_001310442.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 193,
"cds_start": 281,
"cds_end": null,
"cds_length": 582,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 4001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL6",
"gene_hgnc_id": 13210,
"hgvs_c": "c.281T>C",
"hgvs_p": "p.Ile94Thr",
"transcript": "ENST00000631834.2",
"protein_id": "ENSP00000488530.2",
"transcript_support_level": 4,
"aa_start": 94,
"aa_end": null,
"aa_length": 193,
"cds_start": 281,
"cds_end": null,
"cds_length": 582,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL6",
"gene_hgnc_id": 13210,
"hgvs_c": "c.281T>C",
"hgvs_p": "p.Ile94Thr",
"transcript": "NM_032146.5",
"protein_id": "NP_115522.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 186,
"cds_start": 281,
"cds_end": null,
"cds_length": 561,
"cdna_start": 864,
"cdna_end": null,
"cdna_length": 4337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL6",
"gene_hgnc_id": 13210,
"hgvs_c": "c.281T>C",
"hgvs_p": "p.Ile94Thr",
"transcript": "NM_177976.3",
"protein_id": "NP_816931.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 186,
"cds_start": 281,
"cds_end": null,
"cds_length": 561,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 4297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL6",
"gene_hgnc_id": 13210,
"hgvs_c": "c.281T>C",
"hgvs_p": "p.Ile94Thr",
"transcript": "ENST00000335979.6",
"protein_id": "ENSP00000337722.2",
"transcript_support_level": 5,
"aa_start": 94,
"aa_end": null,
"aa_length": 186,
"cds_start": 281,
"cds_end": null,
"cds_length": 561,
"cdna_start": 864,
"cdna_end": null,
"cdna_length": 1630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL6",
"gene_hgnc_id": 13210,
"hgvs_c": "c.281T>C",
"hgvs_p": "p.Ile94Thr",
"transcript": "ENST00000462412.3",
"protein_id": "ENSP00000418740.2",
"transcript_support_level": 5,
"aa_start": 94,
"aa_end": null,
"aa_length": 186,
"cds_start": 281,
"cds_end": null,
"cds_length": 561,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 1590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL6",
"gene_hgnc_id": 13210,
"hgvs_c": "c.281T>C",
"hgvs_p": "p.Ile94Thr",
"transcript": "NM_001323514.2",
"protein_id": "NP_001310443.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 159,
"cds_start": 281,
"cds_end": null,
"cds_length": 480,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 3932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL6",
"gene_hgnc_id": 13210,
"hgvs_c": "c.281T>C",
"hgvs_p": "p.Ile94Thr",
"transcript": "XM_017007311.3",
"protein_id": "XP_016862800.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 186,
"cds_start": 281,
"cds_end": null,
"cds_length": 561,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 4396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL6",
"gene_hgnc_id": 13210,
"hgvs_c": "c.281T>C",
"hgvs_p": "p.Ile94Thr",
"transcript": "XM_017007312.3",
"protein_id": "XP_016862801.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 159,
"cds_start": 281,
"cds_end": null,
"cds_length": 480,
"cdna_start": 864,
"cdna_end": null,
"cdna_length": 4281,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL6",
"gene_hgnc_id": 13210,
"hgvs_c": "c.281T>C",
"hgvs_p": "p.Ile94Thr",
"transcript": "XM_047449062.1",
"protein_id": "XP_047305018.1",
"transcript_support_level": null,
"aa_start": 94,
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"cds_start": 281,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL6",
"gene_hgnc_id": 13210,
"hgvs_c": "n.627T>C",
"hgvs_p": null,
"transcript": "NR_103511.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL6",
"gene_hgnc_id": 13210,
"hgvs_c": "n.627T>C",
"hgvs_p": null,
"transcript": "NR_136595.2",
"protein_id": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"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": "ARL6",
"gene_hgnc_id": 13210,
"hgvs_c": "n.528T>C",
"hgvs_p": null,
"transcript": "NR_136597.2",
"protein_id": null,
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"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"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": "ARL6",
"gene_hgnc_id": 13210,
"hgvs_c": "n.532T>C",
"hgvs_p": null,
"transcript": "NR_136598.2",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL6",
"gene_hgnc_id": 13210,
"hgvs_c": "n.528T>C",
"hgvs_p": null,
"transcript": "NR_136600.3",
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},
{
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"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "ARL6",
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"transcript": "NR_136601.3",
"protein_id": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "ARL6",
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"hgvs_c": "n.528T>C",
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"transcript": "NR_136602.3",
"protein_id": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL6",
"gene_hgnc_id": 13210,
"hgvs_c": "n.765T>C",
"hgvs_p": null,
"transcript": "XR_001740321.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_length": 1629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARL6",
"gene_hgnc_id": 13210,
"hgvs_c": "n.824T>C",
"hgvs_p": null,
"transcript": "XR_007095753.1",
"protein_id": null,
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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}
],
"gene_symbol": "ARL6",
"gene_hgnc_id": 13210,
"dbsnp": "rs771054395",
"frequency_reference_population": 0.0000179824,
"hom_count_reference_population": 0,
"allele_count_reference_population": 29,
"gnomad_exomes_af": 0.0000178005,
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"gnomad_exomes_ac": 26,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.9107131958007812,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.878,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5081,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.27,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.536,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 13,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PP2,PP3_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 13,
"benign_score": 0,
"pathogenic_score": 13,
"criteria": [
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"PP2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000463745.6",
"gene_symbol": "ARL6",
"hgnc_id": 13210,
"effects": [
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],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.281T>C",
"hgvs_p": "p.Ile94Thr"
}
],
"clinvar_disease": "ARL6-related disorder,Bardet-Biedl syndrome 1,Bardet-Biedl syndrome 3,Retinitis pigmentosa,Retinitis pigmentosa 55",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "Retinitis pigmentosa|Retinitis pigmentosa 55;Bardet-Biedl syndrome 3|ARL6-related disorder|Bardet-Biedl syndrome 1;Retinitis pigmentosa 55;Bardet-Biedl syndrome 3",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}