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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: 14-92071041-CTTT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=92071041&ref=CTTT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 92071041,
"ref": "CTTT",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000644486.2",
"consequences": [
{
"aa_ref": "QK",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.882_884delAAA",
"hgvs_p": "p.Lys295del",
"transcript": "NM_004993.6",
"protein_id": "NP_004984.2",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 361,
"cds_start": 882,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 6884,
"mane_select": "ENST00000644486.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QK",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.882_884delAAA",
"hgvs_p": "p.Lys295del",
"transcript": "ENST00000644486.2",
"protein_id": "ENSP00000496695.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 361,
"cds_start": 882,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 914,
"cdna_end": null,
"cdna_length": 6884,
"mane_select": "NM_004993.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QK",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.882_884delAAA",
"hgvs_p": "p.Lys295del",
"transcript": "ENST00000532032.5",
"protein_id": "ENSP00000437157.1",
"transcript_support_level": 1,
"aa_start": 294,
"aa_end": null,
"aa_length": 364,
"cds_start": 882,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 894,
"cdna_end": null,
"cdna_length": 1191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QK",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.837_839delAAA",
"hgvs_p": "p.Lys280del",
"transcript": "ENST00000503767.5",
"protein_id": "ENSP00000426697.1",
"transcript_support_level": 1,
"aa_start": 279,
"aa_end": null,
"aa_length": 346,
"cds_start": 837,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 887,
"cdna_end": null,
"cdna_length": 1315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QK",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.879_881delAAA",
"hgvs_p": "p.Lys294del",
"transcript": "ENST00000554592.5",
"protein_id": "ENSP00000451385.1",
"transcript_support_level": 1,
"aa_start": 293,
"aa_end": null,
"aa_length": 328,
"cds_start": 879,
"cds_end": null,
"cds_length": 988,
"cdna_start": 903,
"cdna_end": null,
"cdna_length": 1010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QK",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.729_731delAAA",
"hgvs_p": "p.Lys244del",
"transcript": "ENST00000393287.9",
"protein_id": "ENSP00000376965.6",
"transcript_support_level": 1,
"aa_start": 243,
"aa_end": null,
"aa_length": 310,
"cds_start": 729,
"cds_end": null,
"cds_length": 933,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 6770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QK",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.717_719delAAA",
"hgvs_p": "p.Lys240del",
"transcript": "ENST00000340660.10",
"protein_id": "ENSP00000339110.6",
"transcript_support_level": 1,
"aa_start": 239,
"aa_end": null,
"aa_length": 306,
"cds_start": 717,
"cds_end": null,
"cds_length": 921,
"cdna_start": 777,
"cdna_end": null,
"cdna_length": 1205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QK",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.672_674delAAA",
"hgvs_p": "p.Lys225del",
"transcript": "ENST00000429774.6",
"protein_id": "ENSP00000389376.3",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 291,
"cds_start": 672,
"cds_end": null,
"cds_length": 876,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 6713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QK",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.729_731delAAA",
"hgvs_p": "p.Lys244del",
"transcript": "ENST00000553491.5",
"protein_id": "ENSP00000451996.1",
"transcript_support_level": 1,
"aa_start": 243,
"aa_end": null,
"aa_length": 277,
"cds_start": 729,
"cds_end": null,
"cds_length": 835,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QK",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.672_674delAAA",
"hgvs_p": "p.Lys225del",
"transcript": "ENST00000555381.5",
"protein_id": "ENSP00000451001.1",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 259,
"cds_start": 672,
"cds_end": null,
"cds_length": 781,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QK",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.564_566delAAA",
"hgvs_p": "p.Lys189del",
"transcript": "ENST00000556220.5",
"protein_id": "ENSP00000450641.1",
"transcript_support_level": 1,
"aa_start": 188,
"aa_end": null,
"aa_length": 222,
"cds_start": 564,
"cds_end": null,
"cds_length": 670,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QK",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.345_347delAAA",
"hgvs_p": "p.Lys116del",
"transcript": "ENST00000502250.5",
"protein_id": "ENSP00000425322.1",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 182,
"cds_start": 345,
"cds_end": null,
"cds_length": 549,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 1259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QK",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.345_347delAAA",
"hgvs_p": "p.Lys116del",
"transcript": "ENST00000557311.6",
"protein_id": "ENSP00000450642.2",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 149,
"cds_start": 345,
"cds_end": null,
"cds_length": 451,
"cdna_start": 455,
"cdna_end": null,
"cdna_length": 559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "QK",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "c.345_347delAAA",
"hgvs_p": "p.Lys116del",
"transcript": "ENST00000554672.6",
"protein_id": "ENSP00000451417.2",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 125,
"cds_start": 345,
"cds_end": null,
"cds_length": 378,
"cdna_start": 652,
"cdna_end": null,
"cdna_length": 683,
"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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "n.*556_*558delAAA",
"hgvs_p": null,
"transcript": "ENST00000359366.10",
"protein_id": "ENSP00000352324.5",
"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": 2572,
"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": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "n.620_622delAAA",
"hgvs_p": null,
"transcript": "ENST00000553287.5",
"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": 726,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "n.916_918delAAA",
"hgvs_p": null,
"transcript": "ENST00000553309.5",
"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": 1022,
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "n.*697_*699delAAA",
"hgvs_p": null,
"transcript": "ENST00000553488.5",
"protein_id": "ENSP00000452461.1",
"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": 1065,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "n.805_807delAAA",
"hgvs_p": null,
"transcript": "ENST00000553498.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 911,
"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": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "n.*341_*343delAAA",
"hgvs_p": null,
"transcript": "ENST00000553570.5",
"protein_id": "ENSP00000451405.1",
"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": 757,
"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": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "n.763_765delAAA",
"hgvs_p": null,
"transcript": "ENST00000553686.5",
"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": 869,
"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": "ATXN3",
"gene_hgnc_id": 7106,
"hgvs_c": "n.486_488delAAA",
"hgvs_p": null,
"transcript": "ENST00000554040.5",
"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": 592,
"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,
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"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000303901",
"gene_hgnc_id": null,
"hgvs_c": "n.131-1336_131-1334delTTT",
"hgvs_p": null,
"transcript": "ENST00000797944.1",
"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": 607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ATXN3",
"gene_hgnc_id": 7106,
"dbsnp": "rs141993435",
"frequency_reference_population": 0.0006401505,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1025,
"gnomad_exomes_af": 0.00070205,
"gnomad_genomes_af": 0.0000337159,
"gnomad_exomes_ac": 1020,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.593,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP3",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP3"
],
"verdict": "Likely_benign",
"transcript": "ENST00000644486.2",
"gene_symbol": "ATXN3",
"hgnc_id": 7106,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.882_884delAAA",
"hgvs_p": "p.Lys295del"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000797940.1",
"gene_symbol": "ENSG00000303901",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.752+30740_752+30742delTTT",
"hgvs_p": null
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}