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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: 3-128896491-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=128896491&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 128896491,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000308982.12",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Ala170Gly",
"transcript": "NM_014049.5",
"protein_id": "NP_054768.2",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 621,
"cds_start": 509,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 2445,
"mane_select": "ENST00000308982.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Ala170Gly",
"transcript": "ENST00000308982.12",
"protein_id": "ENSP00000312618.7",
"transcript_support_level": 1,
"aa_start": 170,
"aa_end": null,
"aa_length": 621,
"cds_start": 509,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 2445,
"mane_select": "NM_014049.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Ala170Gly",
"transcript": "ENST00000681367.1",
"protein_id": "ENSP00000505309.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 643,
"cds_start": 509,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 605,
"cdna_end": null,
"cdna_length": 2596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Ala170Gly",
"transcript": "ENST00000680636.1",
"protein_id": "ENSP00000504886.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 626,
"cds_start": 509,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 2538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.140C>G",
"hgvs_p": "p.Ala47Gly",
"transcript": "NM_001410805.1",
"protein_id": "NP_001397734.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 498,
"cds_start": 140,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 487,
"cdna_end": null,
"cdna_length": 2351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.140C>G",
"hgvs_p": "p.Ala47Gly",
"transcript": "ENST00000679715.1",
"protein_id": "ENSP00000506228.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 498,
"cds_start": 140,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 1889,
"cdna_end": null,
"cdna_length": 3748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.509C>G",
"hgvs_p": "p.Ala170Gly",
"transcript": "ENST00000681552.1",
"protein_id": "ENSP00000505699.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 388,
"cds_start": 509,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 1703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "c.140C>G",
"hgvs_p": "p.Ala47Gly",
"transcript": "XM_024453484.2",
"protein_id": "XP_024309252.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 498,
"cds_start": 140,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 380,
"cdna_end": null,
"cdna_length": 2244,
"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": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.*205C>G",
"hgvs_p": null,
"transcript": "ENST00000505192.5",
"protein_id": "ENSP00000426277.1",
"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": 1693,
"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": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.*309C>G",
"hgvs_p": null,
"transcript": "ENST00000505867.5",
"protein_id": "ENSP00000425346.1",
"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": 2401,
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.*403C>G",
"hgvs_p": null,
"transcript": "ENST00000511227.5",
"protein_id": "ENSP00000425226.1",
"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": 2431,
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.587C>G",
"hgvs_p": null,
"transcript": "ENST00000511325.2",
"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": 3036,
"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": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.*205C>G",
"hgvs_p": null,
"transcript": "ENST00000512801.5",
"protein_id": "ENSP00000427283.1",
"transcript_support_level": 3,
"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": 736,
"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": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.*205C>G",
"hgvs_p": null,
"transcript": "ENST00000514643.5",
"protein_id": "ENSP00000422020.1",
"transcript_support_level": 3,
"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
},
{
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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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.*403C>G",
"hgvs_p": null,
"transcript": "ENST00000679399.1",
"protein_id": "ENSP00000505434.1",
"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,
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"cdna_length": 2880,
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.*381C>G",
"hgvs_p": null,
"transcript": "ENST00000679431.1",
"protein_id": "ENSP00000506440.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": 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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.509C>G",
"hgvs_p": null,
"transcript": "ENST00000679613.1",
"protein_id": "ENSP00000504971.1",
"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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"cdna_length": 2719,
"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": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.*1815C>G",
"hgvs_p": null,
"transcript": "ENST00000679824.1",
"protein_id": "ENSP00000505516.1",
"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": 3987,
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.744C>G",
"hgvs_p": null,
"transcript": "ENST00000679990.1",
"protein_id": null,
"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,
"feature": null
},
{
"aa_ref": 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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.509C>G",
"hgvs_p": null,
"transcript": "ENST00000680744.1",
"protein_id": "ENSP00000505243.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.*1909C>G",
"hgvs_p": null,
"transcript": "ENST00000680764.1",
"protein_id": "ENSP00000505126.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_length": 4096,
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.587C>G",
"hgvs_p": null,
"transcript": "ENST00000681319.1",
"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": 3144,
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAD9",
"gene_hgnc_id": 21497,
"hgvs_c": "n.509C>G",
"hgvs_p": null,
"transcript": "ENST00000681583.1",
"protein_id": "ENSP00000506340.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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}