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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: 17-81846845-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=81846845&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 81846845,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000331483.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.855+102T>C",
"hgvs_p": null,
"transcript": "NM_000918.4",
"protein_id": "NP_000909.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": -4,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2437,
"mane_select": "ENST00000331483.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.855+102T>C",
"hgvs_p": null,
"transcript": "ENST00000331483.9",
"protein_id": "ENSP00000327801.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": -4,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2437,
"mane_select": "NM_000918.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.585+102T>C",
"hgvs_p": null,
"transcript": "ENST00000415593.6",
"protein_id": "ENSP00000388117.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": -4,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "n.1047+102T>C",
"hgvs_p": null,
"transcript": "ENST00000477607.7",
"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": 2527,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "n.834T>C",
"hgvs_p": null,
"transcript": "ENST00000484286.2",
"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": 2691,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "n.1044T>C",
"hgvs_p": null,
"transcript": "ENST00000679470.1",
"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": 2780,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "n.1942T>C",
"hgvs_p": null,
"transcript": "ENST00000679628.1",
"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": 4068,
"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": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "n.1714T>C",
"hgvs_p": null,
"transcript": "ENST00000681571.1",
"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": 3438,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "n.1689T>C",
"hgvs_p": null,
"transcript": "ENST00000681954.1",
"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": 3878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.855+102T>C",
"hgvs_p": null,
"transcript": "ENST00000681020.1",
"protein_id": "ENSP00000506014.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 557,
"cds_start": -4,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.957+102T>C",
"hgvs_p": null,
"transcript": "ENST00000680884.1",
"protein_id": "ENSP00000505953.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 542,
"cds_start": -4,
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"cds_length": 1629,
"cdna_start": null,
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"cdna_length": 2631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.855+102T>C",
"hgvs_p": null,
"transcript": "ENST00000570907.6",
"protein_id": "ENSP00000461362.2",
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": 537,
"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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.930+102T>C",
"hgvs_p": null,
"transcript": "ENST00000680191.1",
"protein_id": "ENSP00000506544.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 533,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.855+102T>C",
"hgvs_p": null,
"transcript": "ENST00000680226.1",
"protein_id": "ENSP00000505635.1",
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 6,
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"gene_symbol": "P4HB",
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"hgvs_c": "c.795+102T>C",
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"transcript": "ENST00000680914.1",
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.855+102T>C",
"hgvs_p": null,
"transcript": "ENST00000680593.1",
"protein_id": "ENSP00000505754.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 6,
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"gene_symbol": "P4HB",
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"hgvs_c": "c.774+102T>C",
"hgvs_p": null,
"transcript": "ENST00000681693.1",
"protein_id": "ENSP00000505096.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.855+102T>C",
"hgvs_p": null,
"transcript": "ENST00000679439.1",
"protein_id": "ENSP00000505377.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
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},
{
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"canonical": false,
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"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.747+102T>C",
"hgvs_p": null,
"transcript": "ENST00000574914.2",
"protein_id": "ENSP00000460612.2",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "P4HB",
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"hgvs_c": "c.730-216T>C",
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"transcript": "ENST00000571617.2",
"protein_id": "ENSP00000458300.2",
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},
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "P4HB",
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"hgvs_c": "c.723+102T>C",
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},
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.855+102T>C",
"hgvs_p": null,
"transcript": "ENST00000576390.6",
"protein_id": "ENSP00000461718.2",
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"aa_start": null,
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"aa_length": 463,
"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.648+102T>C",
"hgvs_p": null,
"transcript": "ENST00000681161.1",
"protein_id": "ENSP00000505659.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 439,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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