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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: 7-69899331-A-ACGCCC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=69899331&ref=A&alt=ACGCCC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 69899331,
"ref": "A",
"alt": "ACGCCC",
"effect": "frameshift_variant",
"transcript": "ENST00000342771.10",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "RP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.357_361dupGCCCC",
"hgvs_p": "p.Leu121fs",
"transcript": "NM_015570.4",
"protein_id": "NP_056385.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 1259,
"cds_start": 362,
"cds_end": null,
"cds_length": 3780,
"cdna_start": 1541,
"cdna_end": null,
"cdna_length": 7469,
"mane_select": "ENST00000342771.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "RP?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.357_361dupGCCCC",
"hgvs_p": "p.Leu121fs",
"transcript": "ENST00000342771.10",
"protein_id": "ENSP00000344087.4",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 1259,
"cds_start": 362,
"cds_end": null,
"cds_length": 3780,
"cdna_start": 1541,
"cdna_end": null,
"cdna_length": 7469,
"mane_select": "NM_015570.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "RP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.357_361dupGCCCC",
"hgvs_p": "p.Leu121fs",
"transcript": "ENST00000406775.6",
"protein_id": "ENSP00000385263.2",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 1235,
"cds_start": 362,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 5950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "RP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.357_361dupGCCCC",
"hgvs_p": "p.Leu121fs",
"transcript": "ENST00000403018.3",
"protein_id": "ENSP00000385572.2",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 266,
"cds_start": 362,
"cds_end": null,
"cds_length": 801,
"cdna_start": 405,
"cdna_end": null,
"cdna_length": 4575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "RP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.357_361dupGCCCC",
"hgvs_p": "p.Leu121fs",
"transcript": "ENST00000644939.1",
"protein_id": "ENSP00000496726.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 1258,
"cds_start": 362,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 1720,
"cdna_end": null,
"cdna_length": 7006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "RP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.357_361dupGCCCC",
"hgvs_p": "p.Leu121fs",
"transcript": "NM_001127231.3",
"protein_id": "NP_001120703.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 1235,
"cds_start": 362,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 1541,
"cdna_end": null,
"cdna_length": 7397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "RP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.357_361dupGCCCC",
"hgvs_p": "p.Leu121fs",
"transcript": "NM_001127232.3",
"protein_id": "NP_001120704.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 266,
"cds_start": 362,
"cds_end": null,
"cds_length": 801,
"cdna_start": 1541,
"cdna_end": null,
"cdna_length": 5711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "RP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.135_139dupGCCCC",
"hgvs_p": "p.Leu47fs",
"transcript": "ENST00000643936.1",
"protein_id": "ENSP00000494446.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 150,
"cds_start": 140,
"cds_end": null,
"cds_length": 453,
"cdna_start": 141,
"cdna_end": null,
"cdna_length": 2540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "RP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.357_361dupGCCCC",
"hgvs_p": "p.Leu121fs",
"transcript": "XM_011516010.3",
"protein_id": "XP_011514312.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 1266,
"cds_start": 362,
"cds_end": null,
"cds_length": 3801,
"cdna_start": 1541,
"cdna_end": null,
"cdna_length": 7490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "RP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.357_361dupGCCCC",
"hgvs_p": "p.Leu121fs",
"transcript": "XM_011516011.3",
"protein_id": "XP_011514313.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 1265,
"cds_start": 362,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 1541,
"cdna_end": null,
"cdna_length": 7487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "RP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.357_361dupGCCCC",
"hgvs_p": "p.Leu121fs",
"transcript": "XM_047420154.1",
"protein_id": "XP_047276110.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 1258,
"cds_start": 362,
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"cds_length": 3777,
"cdna_start": 1541,
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"cdna_length": 7466,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "RP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.357_361dupGCCCC",
"hgvs_p": "p.Leu121fs",
"transcript": "XM_011516012.3",
"protein_id": "XP_011514314.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 1244,
"cds_start": 362,
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"cdna_start": 1541,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "RP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.357_361dupGCCCC",
"hgvs_p": "p.Leu121fs",
"transcript": "XM_047420155.1",
"protein_id": "XP_047276111.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 1243,
"cds_start": 362,
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"cdna_start": 1541,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.357_361dupGCCCC",
"hgvs_p": "p.Leu121fs",
"transcript": "XM_011516013.3",
"protein_id": "XP_011514315.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.357_361dupGCCCC",
"hgvs_p": "p.Leu121fs",
"transcript": "XM_047420156.1",
"protein_id": "XP_047276112.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 1234,
"cds_start": 362,
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"cdna_start": 1541,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.357_361dupGCCCC",
"hgvs_p": "p.Leu121fs",
"transcript": "XM_011516014.3",
"protein_id": "XP_011514316.1",
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"mane_select": null,
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"feature": null
},
{
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"aa_alt": "RP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.357_361dupGCCCC",
"hgvs_p": "p.Leu121fs",
"transcript": "XM_047420157.1",
"protein_id": "XP_047276113.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 1225,
"cds_start": 362,
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"cdna_start": 1541,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "RP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.357_361dupGCCCC",
"hgvs_p": "p.Leu121fs",
"transcript": "XM_047420158.1",
"protein_id": "XP_047276114.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 1224,
"cds_start": 362,
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"cdna_start": 1541,
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"mane_select": null,
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"feature": null
},
{
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"aa_alt": "RP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.357_361dupGCCCC",
"hgvs_p": "p.Leu121fs",
"transcript": "XM_047420159.1",
"protein_id": "XP_047276115.1",
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"feature": null
},
{
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"aa_alt": "RP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.357_361dupGCCCC",
"hgvs_p": "p.Leu121fs",
"transcript": "XM_047420160.1",
"protein_id": "XP_047276116.1",
"transcript_support_level": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
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"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.357_361dupGCCCC",
"hgvs_p": "p.Leu121fs",
"transcript": "XM_047420161.1",
"protein_id": "XP_047276117.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 1210,
"cds_start": 362,
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"cdna_start": 1541,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "RP?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.357_361dupGCCCC",
"hgvs_p": "p.Leu121fs",
"transcript": "XM_047420162.1",
"protein_id": "XP_047276118.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 1209,
"cds_start": 362,
"cds_end": null,
"cds_length": 3630,
"cdna_start": 1541,
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"cdna_length": 7319,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
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}
],
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"dbsnp": "rs1554401434",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
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"alphamissense_score": null,
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"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.573,
"phylop100way_prediction": "Benign",
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"acmg_score": 11,
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"acmg_by_gene": [
{
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"criteria": [
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"PM2",
"PP5"
],
"verdict": "Pathogenic",
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"effects": [
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],
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}
],
"clinvar_disease": "Autism spectrum disorder due to AUTS2 deficiency",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Autism spectrum disorder due to AUTS2 deficiency",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}