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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: 2-113246785-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=113246785&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 113246785,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000429538.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX8",
"gene_hgnc_id": 8622,
"hgvs_c": "c.160A>T",
"hgvs_p": "p.Ser54Cys",
"transcript": "NM_003466.4",
"protein_id": "NP_003457.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 450,
"cds_start": 160,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 4055,
"mane_select": "ENST00000429538.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX8",
"gene_hgnc_id": 8622,
"hgvs_c": "c.160A>T",
"hgvs_p": "p.Ser54Cys",
"transcript": "ENST00000429538.8",
"protein_id": "ENSP00000395498.3",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 450,
"cds_start": 160,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 4055,
"mane_select": "NM_003466.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX8",
"gene_hgnc_id": 8622,
"hgvs_c": "c.160A>T",
"hgvs_p": "p.Ser54Cys",
"transcript": "ENST00000263334.9",
"protein_id": "ENSP00000263334.6",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 450,
"cds_start": 160,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 4152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX8",
"gene_hgnc_id": 8622,
"hgvs_c": "c.160A>T",
"hgvs_p": "p.Ser54Cys",
"transcript": "ENST00000348715.9",
"protein_id": "ENSP00000314750.5",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 398,
"cds_start": 160,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 316,
"cdna_end": null,
"cdna_length": 3966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX8",
"gene_hgnc_id": 8622,
"hgvs_c": "c.160A>T",
"hgvs_p": "p.Ser54Cys",
"transcript": "ENST00000263335.11",
"protein_id": "ENSP00000263335.7",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 321,
"cds_start": 160,
"cds_end": null,
"cds_length": 966,
"cdna_start": 316,
"cdna_end": null,
"cdna_length": 3735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX8",
"gene_hgnc_id": 8622,
"hgvs_c": "c.160A>T",
"hgvs_p": "p.Ser54Cys",
"transcript": "ENST00000397647.7",
"protein_id": "ENSP00000380768.3",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 287,
"cds_start": 160,
"cds_end": null,
"cds_length": 864,
"cdna_start": 316,
"cdna_end": null,
"cdna_length": 3633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PAX8-AS1",
"gene_hgnc_id": 49271,
"hgvs_c": "n.36-8605T>A",
"hgvs_p": null,
"transcript": "ENST00000422956.6",
"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": 11799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PAX8-AS1",
"gene_hgnc_id": 49271,
"hgvs_c": "n.355-3982T>A",
"hgvs_p": null,
"transcript": "ENST00000436293.6",
"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": 2687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PAX8-AS1",
"gene_hgnc_id": 49271,
"hgvs_c": "n.378-8605T>A",
"hgvs_p": null,
"transcript": "ENST00000445745.6",
"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": 8477,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PAX8-AS1",
"gene_hgnc_id": 49271,
"hgvs_c": "n.188+8573T>A",
"hgvs_p": null,
"transcript": "ENST00000451179.6",
"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": 7967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX8",
"gene_hgnc_id": 8622,
"hgvs_c": "c.160A>T",
"hgvs_p": "p.Ser54Cys",
"transcript": "ENST00000681162.1",
"protein_id": "ENSP00000505425.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 453,
"cds_start": 160,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 4036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX8",
"gene_hgnc_id": 8622,
"hgvs_c": "c.160A>T",
"hgvs_p": "p.Ser54Cys",
"transcript": "NM_013952.4",
"protein_id": "NP_039246.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 398,
"cds_start": 160,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 3976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX8",
"gene_hgnc_id": 8622,
"hgvs_c": "c.160A>T",
"hgvs_p": "p.Ser54Cys",
"transcript": "ENST00000468980.4",
"protein_id": "ENSP00000451240.2",
"transcript_support_level": 3,
"aa_start": 54,
"aa_end": null,
"aa_length": 387,
"cds_start": 160,
"cds_end": null,
"cds_length": 1164,
"cdna_start": 183,
"cdna_end": null,
"cdna_length": 2344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX8",
"gene_hgnc_id": 8622,
"hgvs_c": "c.160A>T",
"hgvs_p": "p.Ser54Cys",
"transcript": "NM_013953.4",
"protein_id": "NP_039247.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
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"cds_start": 160,
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"cdna_start": 326,
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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": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX8",
"gene_hgnc_id": 8622,
"hgvs_c": "c.160A>T",
"hgvs_p": "p.Ser54Cys",
"transcript": "NM_013992.4",
"protein_id": "NP_054698.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 287,
"cds_start": 160,
"cds_end": null,
"cds_length": 864,
"cdna_start": 326,
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"cdna_length": 3643,
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAX8",
"gene_hgnc_id": 8622,
"hgvs_c": "n.324A>T",
"hgvs_p": null,
"transcript": "ENST00000467778.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"mane_select": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PAX8",
"gene_hgnc_id": 8622,
"hgvs_c": "c.-40-4007A>T",
"hgvs_p": null,
"transcript": "ENST00000554830.2",
"protein_id": "ENSP00000451213.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 115,
"cds_start": -4,
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"cds_length": 348,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PAX8-AS1",
"gene_hgnc_id": 49271,
"hgvs_c": "n.133-8605T>A",
"hgvs_p": null,
"transcript": "ENST00000333145.9",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2319,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PAX8-AS1",
"gene_hgnc_id": 49271,
"hgvs_c": "n.367+11215T>A",
"hgvs_p": null,
"transcript": "ENST00000556070.6",
"protein_id": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PAX8-AS1",
"gene_hgnc_id": 49271,
"hgvs_c": "n.147-8605T>A",
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"protein_id": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PAX8-AS1",
"gene_hgnc_id": 49271,
"hgvs_c": "n.494+7361T>A",
"hgvs_p": null,
"transcript": "ENST00000617278.2",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PAX8-AS1",
"gene_hgnc_id": 49271,
"hgvs_c": "n.152-8605T>A",
"hgvs_p": null,
"transcript": "ENST00000617509.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_length": 994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PAX8-AS1",
"gene_hgnc_id": 49271,
"hgvs_c": "n.147-3982T>A",
"hgvs_p": null,
"transcript": "ENST00000623306.3",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 840,
"mane_select": null,
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"biotype": null,
"feature": null
},
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