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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: 6-111372921-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=111372921&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 111372921,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000368802.8",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "c.5434G>T",
"hgvs_p": "p.Asp1812Tyr",
"transcript": "NM_001372078.1",
"protein_id": "NP_001359007.1",
"transcript_support_level": null,
"aa_start": 1812,
"aa_end": null,
"aa_length": 3130,
"cds_start": 5434,
"cds_end": null,
"cds_length": 9393,
"cdna_start": 5764,
"cdna_end": null,
"cdna_length": 10706,
"mane_select": "ENST00000368802.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "c.5434G>T",
"hgvs_p": "p.Asp1812Tyr",
"transcript": "ENST00000368802.8",
"protein_id": "ENSP00000357792.3",
"transcript_support_level": 1,
"aa_start": 1812,
"aa_end": null,
"aa_length": 3130,
"cds_start": 5434,
"cds_end": null,
"cds_length": 9393,
"cdna_start": 5764,
"cdna_end": null,
"cdna_length": 10706,
"mane_select": "NM_001372078.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "c.5434G>T",
"hgvs_p": "p.Asp1812Tyr",
"transcript": "NM_002912.5",
"protein_id": "NP_002903.3",
"transcript_support_level": null,
"aa_start": 1812,
"aa_end": null,
"aa_length": 3130,
"cds_start": 5434,
"cds_end": null,
"cds_length": 9393,
"cdna_start": 5888,
"cdna_end": null,
"cdna_length": 10830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "c.5434G>T",
"hgvs_p": "p.Asp1812Tyr",
"transcript": "ENST00000358835.7",
"protein_id": "ENSP00000351697.3",
"transcript_support_level": 5,
"aa_start": 1812,
"aa_end": null,
"aa_length": 3130,
"cds_start": 5434,
"cds_end": null,
"cds_length": 9393,
"cdna_start": 5892,
"cdna_end": null,
"cdna_length": 10815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "c.5200G>T",
"hgvs_p": "p.Asp1734Tyr",
"transcript": "NM_001286431.2",
"protein_id": "NP_001273360.1",
"transcript_support_level": null,
"aa_start": 1734,
"aa_end": null,
"aa_length": 3052,
"cds_start": 5200,
"cds_end": null,
"cds_length": 9159,
"cdna_start": 6123,
"cdna_end": null,
"cdna_length": 11065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "c.5200G>T",
"hgvs_p": "p.Asp1734Tyr",
"transcript": "NM_001286432.2",
"protein_id": "NP_001273361.1",
"transcript_support_level": null,
"aa_start": 1734,
"aa_end": null,
"aa_length": 3052,
"cds_start": 5200,
"cds_end": null,
"cds_length": 9159,
"cdna_start": 6016,
"cdna_end": null,
"cdna_length": 10958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "c.5200G>T",
"hgvs_p": "p.Asp1734Tyr",
"transcript": "ENST00000435970.5",
"protein_id": "ENSP00000402003.1",
"transcript_support_level": 2,
"aa_start": 1734,
"aa_end": null,
"aa_length": 3052,
"cds_start": 5200,
"cds_end": null,
"cds_length": 9159,
"cdna_start": 6020,
"cdna_end": null,
"cdna_length": 10943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "c.5437G>T",
"hgvs_p": "p.Asp1813Tyr",
"transcript": "XM_011536028.3",
"protein_id": "XP_011534330.1",
"transcript_support_level": null,
"aa_start": 1813,
"aa_end": null,
"aa_length": 3157,
"cds_start": 5437,
"cds_end": null,
"cds_length": 9474,
"cdna_start": 5778,
"cdna_end": null,
"cdna_length": 10798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "c.5434G>T",
"hgvs_p": "p.Asp1812Tyr",
"transcript": "XM_011536029.4",
"protein_id": "XP_011534331.1",
"transcript_support_level": null,
"aa_start": 1812,
"aa_end": null,
"aa_length": 3156,
"cds_start": 5434,
"cds_end": null,
"cds_length": 9471,
"cdna_start": 5775,
"cdna_end": null,
"cdna_length": 10795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "c.5437G>T",
"hgvs_p": "p.Asp1813Tyr",
"transcript": "XM_011536030.4",
"protein_id": "XP_011534332.1",
"transcript_support_level": null,
"aa_start": 1813,
"aa_end": null,
"aa_length": 3131,
"cds_start": 5437,
"cds_end": null,
"cds_length": 9396,
"cdna_start": 5778,
"cdna_end": null,
"cdna_length": 10720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "c.5203G>T",
"hgvs_p": "p.Asp1735Tyr",
"transcript": "XM_011536032.3",
"protein_id": "XP_011534334.1",
"transcript_support_level": null,
"aa_start": 1735,
"aa_end": null,
"aa_length": 3079,
"cds_start": 5203,
"cds_end": null,
"cds_length": 9240,
"cdna_start": 13792,
"cdna_end": null,
"cdna_length": 18812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "c.5437G>T",
"hgvs_p": "p.Asp1813Tyr",
"transcript": "XM_047419215.1",
"protein_id": "XP_047275171.1",
"transcript_support_level": null,
"aa_start": 1813,
"aa_end": null,
"aa_length": 2900,
"cds_start": 5437,
"cds_end": null,
"cds_length": 8703,
"cdna_start": 5778,
"cdna_end": null,
"cdna_length": 9160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "c.5437G>T",
"hgvs_p": "p.Asp1813Tyr",
"transcript": "XM_047419216.1",
"protein_id": "XP_047275172.1",
"transcript_support_level": null,
"aa_start": 1813,
"aa_end": null,
"aa_length": 2874,
"cds_start": 5437,
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"cds_length": 8625,
"cdna_start": 5778,
"cdna_end": null,
"cdna_length": 9092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "c.5437G>T",
"hgvs_p": "p.Asp1813Tyr",
"transcript": "XM_047419217.1",
"protein_id": "XP_047275173.1",
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"aa_start": 1813,
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"cds_start": 5437,
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"cdna_start": 5778,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "c.5437G>T",
"hgvs_p": "p.Asp1813Tyr",
"transcript": "XM_047419218.1",
"protein_id": "XP_047275174.1",
"transcript_support_level": null,
"aa_start": 1813,
"aa_end": null,
"aa_length": 2706,
"cds_start": 5437,
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"cdna_start": 5778,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
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"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "c.5437G>T",
"hgvs_p": "p.Asp1813Tyr",
"transcript": "XM_047419219.1",
"protein_id": "XP_047275175.1",
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"cds_start": 5437,
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"cdna_start": 5778,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "c.5437G>T",
"hgvs_p": "p.Asp1813Tyr",
"transcript": "XM_011536036.4",
"protein_id": "XP_011534338.1",
"transcript_support_level": null,
"aa_start": 1813,
"aa_end": null,
"aa_length": 2328,
"cds_start": 5437,
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"cdna_start": 5778,
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"cdna_length": 7402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "c.5437G>T",
"hgvs_p": "p.Asp1813Tyr",
"transcript": "XM_047419220.1",
"protein_id": "XP_047275176.1",
"transcript_support_level": null,
"aa_start": 1813,
"aa_end": null,
"aa_length": 2328,
"cds_start": 5437,
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"cdna_start": 5778,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "c.5437G>T",
"hgvs_p": "p.Asp1813Tyr",
"transcript": "XM_017011155.3",
"protein_id": "XP_016866644.1",
"transcript_support_level": null,
"aa_start": 1813,
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"cdna_start": 5778,
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"mane_select": null,
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"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": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "n.*5418G>T",
"hgvs_p": null,
"transcript": "ENST00000422377.5",
"protein_id": "ENSP00000393184.1",
"transcript_support_level": 2,
"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,
"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": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "n.*5525G>T",
"hgvs_p": null,
"transcript": "ENST00000434009.5",
"protein_id": "ENSP00000391605.1",
"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": 10644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "n.*5418G>T",
"hgvs_p": null,
"transcript": "ENST00000422377.5",
"protein_id": "ENSP00000393184.1",
"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": 10964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
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{
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}
],
"message": null
}