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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: 4-26406269-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=26406269&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 26406269,
"ref": "A",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000355476.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.154A>G",
"hgvs_p": "p.Arg52Gly",
"transcript": "NM_015874.6",
"protein_id": "NP_056958.3",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 487,
"cds_start": 154,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 169,
"cdna_end": null,
"cdna_length": 5395,
"mane_select": "ENST00000355476.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.154A>G",
"hgvs_p": "p.Arg52Gly",
"transcript": "ENST00000355476.8",
"protein_id": "ENSP00000347659.4",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 487,
"cds_start": 154,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 169,
"cdna_end": null,
"cdna_length": 5395,
"mane_select": "NM_015874.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.193A>G",
"hgvs_p": "p.Arg65Gly",
"transcript": "ENST00000361572.10",
"protein_id": "ENSP00000354528.6",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 500,
"cds_start": 193,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 1697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.151A>G",
"hgvs_p": "p.Arg51Gly",
"transcript": "ENST00000342320.8",
"protein_id": "ENSP00000340124.4",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 486,
"cds_start": 151,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 5761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.151A>G",
"hgvs_p": "p.Arg51Gly",
"transcript": "ENST00000348160.9",
"protein_id": "ENSP00000339699.5",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 486,
"cds_start": 151,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 1998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Arg30Gly",
"transcript": "ENST00000345843.8",
"protein_id": "ENSP00000305815.6",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 465,
"cds_start": 88,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 313,
"cdna_end": null,
"cdna_length": 1682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Arg30Gly",
"transcript": "ENST00000507561.5",
"protein_id": "ENSP00000423907.1",
"transcript_support_level": 1,
"aa_start": 30,
"aa_end": null,
"aa_length": 465,
"cds_start": 88,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 203,
"cdna_end": null,
"cdna_length": 1689,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.193A>G",
"hgvs_p": "p.Arg65Gly",
"transcript": "NM_001374400.1",
"protein_id": "NP_001361329.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 500,
"cds_start": 193,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 5709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.193A>G",
"hgvs_p": "p.Arg65Gly",
"transcript": "NM_005349.4",
"protein_id": "NP_005340.2",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 500,
"cds_start": 193,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 5827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.193A>G",
"hgvs_p": "p.Arg65Gly",
"transcript": "ENST00000342295.6",
"protein_id": "ENSP00000345206.1",
"transcript_support_level": 5,
"aa_start": 65,
"aa_end": null,
"aa_length": 500,
"cds_start": 193,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 1992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.193A>G",
"hgvs_p": "p.Arg65Gly",
"transcript": "ENST00000512671.6",
"protein_id": "ENSP00000423644.2",
"transcript_support_level": 2,
"aa_start": 65,
"aa_end": null,
"aa_length": 500,
"cds_start": 193,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 1843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.151A>G",
"hgvs_p": "p.Arg51Gly",
"transcript": "NM_001374401.1",
"protein_id": "NP_001361330.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 486,
"cds_start": 151,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 474,
"cdna_end": null,
"cdna_length": 5908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.151A>G",
"hgvs_p": "p.Arg51Gly",
"transcript": "NM_001374402.1",
"protein_id": "NP_001361331.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 486,
"cds_start": 151,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 377,
"cdna_end": null,
"cdna_length": 5811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.151A>G",
"hgvs_p": "p.Arg51Gly",
"transcript": "NM_001374403.1",
"protein_id": "NP_001361332.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 486,
"cds_start": 151,
"cds_end": null,
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"cdna_start": 401,
"cdna_end": null,
"cdna_length": 5835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.151A>G",
"hgvs_p": "p.Arg51Gly",
"transcript": "NM_001379406.1",
"protein_id": "NP_001366335.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 486,
"cds_start": 151,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 460,
"cdna_end": null,
"cdna_length": 5894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.151A>G",
"hgvs_p": "p.Arg51Gly",
"transcript": "NM_001379407.1",
"protein_id": "NP_001366336.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 486,
"cds_start": 151,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 6010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.151A>G",
"hgvs_p": "p.Arg51Gly",
"transcript": "NM_203284.3",
"protein_id": "NP_976029.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 486,
"cds_start": 151,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 352,
"cdna_end": null,
"cdna_length": 5786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.151A>G",
"hgvs_p": "p.Arg51Gly",
"transcript": "ENST00000505958.6",
"protein_id": "ENSP00000426872.2",
"transcript_support_level": 5,
"aa_start": 51,
"aa_end": null,
"aa_length": 486,
"cds_start": 151,
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"cdna_start": 824,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.151A>G",
"hgvs_p": "p.Arg51Gly",
"transcript": "ENST00000680928.1",
"protein_id": "ENSP00000505493.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 486,
"cds_start": 151,
"cds_end": null,
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"cdna_start": 369,
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"cdna_length": 1850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.151A>G",
"hgvs_p": "p.Arg51Gly",
"transcript": "ENST00000681093.1",
"protein_id": "ENSP00000504964.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 486,
"cds_start": 151,
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"cdna_start": 663,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Arg30Gly",
"transcript": "NM_001363577.2",
"protein_id": "NP_001350506.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 465,
"cds_start": 88,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 778,
"cdna_end": null,
"cdna_length": 6212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPJ",
"gene_hgnc_id": 5724,
"hgvs_c": "c.88A>G",
"hgvs_p": "p.Arg30Gly",
"transcript": "NM_203283.5",
"protein_id": "NP_976028.2",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 465,
"cds_start": 88,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 277,
"cdna_end": null,
"cdna_length": 5711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
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}