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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: 10-4833399-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=4833399&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 4833399,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000298375.12",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1E2",
"gene_hgnc_id": 23437,
"hgvs_c": "c.257A>C",
"hgvs_p": "p.Lys86Thr",
"transcript": "NM_001040177.3",
"protein_id": "NP_001035267.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 320,
"cds_start": 257,
"cds_end": null,
"cds_length": 963,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 1613,
"mane_select": "ENST00000298375.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1E2",
"gene_hgnc_id": 23437,
"hgvs_c": "c.257A>C",
"hgvs_p": "p.Lys86Thr",
"transcript": "ENST00000298375.12",
"protein_id": "ENSP00000298375.7",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 320,
"cds_start": 257,
"cds_end": null,
"cds_length": 963,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 1613,
"mane_select": "NM_001040177.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1E2",
"gene_hgnc_id": 23437,
"hgvs_c": "c.257A>C",
"hgvs_p": "p.Lys86Thr",
"transcript": "ENST00000334019.4",
"protein_id": "ENSP00000335034.4",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 263,
"cds_start": 257,
"cds_end": null,
"cds_length": 792,
"cdna_start": 286,
"cdna_end": null,
"cdna_length": 1036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1E2",
"gene_hgnc_id": 23437,
"hgvs_c": "c.257A>C",
"hgvs_p": "p.Lys86Thr",
"transcript": "ENST00000532248.5",
"protein_id": "ENSP00000432947.1",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 250,
"cds_start": 257,
"cds_end": null,
"cds_length": 753,
"cdna_start": 286,
"cdna_end": null,
"cdna_length": 844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1E2",
"gene_hgnc_id": 23437,
"hgvs_c": "c.257A>C",
"hgvs_p": "p.Lys86Thr",
"transcript": "ENST00000345253.9",
"protein_id": "ENSP00000335603.5",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 222,
"cds_start": 257,
"cds_end": null,
"cds_length": 669,
"cdna_start": 286,
"cdna_end": null,
"cdna_length": 913,
"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": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1E2",
"gene_hgnc_id": 23437,
"hgvs_c": "n.257A>C",
"hgvs_p": null,
"transcript": "ENST00000463345.5",
"protein_id": "ENSP00000436794.1",
"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": 1655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1E2",
"gene_hgnc_id": 23437,
"hgvs_c": "c.257A>C",
"hgvs_p": "p.Lys86Thr",
"transcript": "NM_001271021.2",
"protein_id": "NP_001257950.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 263,
"cds_start": 257,
"cds_end": null,
"cds_length": 792,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 1442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1E2",
"gene_hgnc_id": 23437,
"hgvs_c": "c.257A>C",
"hgvs_p": "p.Lys86Thr",
"transcript": "NM_001271025.2",
"protein_id": "NP_001257954.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 222,
"cds_start": 257,
"cds_end": null,
"cds_length": 669,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 1319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1E2",
"gene_hgnc_id": 23437,
"hgvs_c": "c.269A>C",
"hgvs_p": "p.Lys90Thr",
"transcript": "ENST00000533295.5",
"protein_id": "ENSP00000435436.1",
"transcript_support_level": 3,
"aa_start": 90,
"aa_end": null,
"aa_length": 197,
"cds_start": 269,
"cds_end": null,
"cds_length": 596,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1E2",
"gene_hgnc_id": 23437,
"hgvs_c": "c.269A>C",
"hgvs_p": "p.Lys90Thr",
"transcript": "XM_011519715.3",
"protein_id": "XP_011518017.2",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 324,
"cds_start": 269,
"cds_end": null,
"cds_length": 975,
"cdna_start": 284,
"cdna_end": null,
"cdna_length": 1522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1E2",
"gene_hgnc_id": 23437,
"hgvs_c": "c.257A>C",
"hgvs_p": "p.Lys86Thr",
"transcript": "XM_047425811.1",
"protein_id": "XP_047281767.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 290,
"cds_start": 257,
"cds_end": null,
"cds_length": 873,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 1270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1E2",
"gene_hgnc_id": 23437,
"hgvs_c": "c.257A>C",
"hgvs_p": "p.Lys86Thr",
"transcript": "XM_024448225.2",
"protein_id": "XP_024303993.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 280,
"cds_start": 257,
"cds_end": null,
"cds_length": 843,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 1530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1E2",
"gene_hgnc_id": 23437,
"hgvs_c": "c.257A>C",
"hgvs_p": "p.Lys86Thr",
"transcript": "XM_047425812.1",
"protein_id": "XP_047281768.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 226,
"cds_start": 257,
"cds_end": null,
"cds_length": 681,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 885,
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1E2",
"gene_hgnc_id": 23437,
"hgvs_c": "n.45A>C",
"hgvs_p": null,
"transcript": "ENST00000441590.5",
"protein_id": null,
"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": 488,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1E2",
"gene_hgnc_id": 23437,
"hgvs_c": "n.270A>C",
"hgvs_p": null,
"transcript": "ENST00000462718.7",
"protein_id": null,
"transcript_support_level": 5,
"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": 686,
"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": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1E2",
"gene_hgnc_id": 23437,
"hgvs_c": "n.-56A>C",
"hgvs_p": null,
"transcript": "ENST00000474119.5",
"protein_id": "ENSP00000434437.1",
"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": 1626,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1E2",
"gene_hgnc_id": 23437,
"hgvs_c": "n.128A>C",
"hgvs_p": null,
"transcript": "ENST00000525627.1",
"protein_id": null,
"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": 319,
"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": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1E2",
"gene_hgnc_id": 23437,
"hgvs_c": "n.375A>C",
"hgvs_p": null,
"transcript": "NR_073125.2",
"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": 1682,
"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": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1E2",
"gene_hgnc_id": 23437,
"hgvs_c": "n.319A>C",
"hgvs_p": null,
"transcript": "NR_073126.1",
"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": 1626,
"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": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1E2",
"gene_hgnc_id": 23437,
"hgvs_c": "n.375A>C",
"hgvs_p": null,
"transcript": "NR_073127.2",
"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": 1511,
"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": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1E2",
"gene_hgnc_id": 23437,
"hgvs_c": "n.284A>C",
"hgvs_p": null,
"transcript": "XR_001747220.2",
"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": 1144,
"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": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1E2",
"gene_hgnc_id": 23437,
"hgvs_c": "n.375A>C",
"hgvs_p": null,
"transcript": "XR_001747221.2",
"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": 1208,
"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": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKR1E2",
"gene_hgnc_id": 23437,
"hgvs_c": "n.375A>C",
"hgvs_p": null,
"transcript": "XR_007062002.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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}
],
"message": null
}