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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: 4-20749681-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=20749681&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 20749681,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_025221.6",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP4",
"gene_hgnc_id": 30083,
"hgvs_c": "c.410A>G",
"hgvs_p": "p.Asn137Ser",
"transcript": "NM_025221.6",
"protein_id": "NP_079497.2",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 250,
"cds_start": 410,
"cds_end": null,
"cds_length": 753,
"cdna_start": 551,
"cdna_end": null,
"cdna_length": 2370,
"mane_select": "ENST00000382152.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025221.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP4",
"gene_hgnc_id": 30083,
"hgvs_c": "c.410A>G",
"hgvs_p": "p.Asn137Ser",
"transcript": "ENST00000382152.7",
"protein_id": "ENSP00000371587.2",
"transcript_support_level": 5,
"aa_start": 137,
"aa_end": null,
"aa_length": 250,
"cds_start": 410,
"cds_end": null,
"cds_length": 753,
"cdna_start": 551,
"cdna_end": null,
"cdna_length": 2370,
"mane_select": "NM_025221.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382152.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP4",
"gene_hgnc_id": 30083,
"hgvs_c": "c.359A>G",
"hgvs_p": "p.Asn120Ser",
"transcript": "ENST00000382149.9",
"protein_id": "ENSP00000494651.1",
"transcript_support_level": 1,
"aa_start": 120,
"aa_end": null,
"aa_length": 233,
"cds_start": 359,
"cds_end": null,
"cds_length": 702,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 984,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382149.9"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP4",
"gene_hgnc_id": 30083,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.Asn116Ser",
"transcript": "ENST00000382150.8",
"protein_id": "ENSP00000371585.4",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 229,
"cds_start": 347,
"cds_end": null,
"cds_length": 690,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 1645,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382150.8"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP4",
"gene_hgnc_id": 30083,
"hgvs_c": "c.335A>G",
"hgvs_p": "p.Asn112Ser",
"transcript": "ENST00000382148.7",
"protein_id": "ENSP00000371583.3",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 225,
"cds_start": 335,
"cds_end": null,
"cds_length": 678,
"cdna_start": 672,
"cdna_end": null,
"cdna_length": 2481,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382148.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP4",
"gene_hgnc_id": 30083,
"hgvs_c": "c.224A>G",
"hgvs_p": "p.Asn75Ser",
"transcript": "ENST00000509207.1",
"protein_id": "ENSP00000423257.1",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 188,
"cds_start": 224,
"cds_end": null,
"cds_length": 567,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 1301,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509207.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP4",
"gene_hgnc_id": 30083,
"hgvs_c": "c.359A>G",
"hgvs_p": "p.Asn120Ser",
"transcript": "NM_001363504.2",
"protein_id": "NP_001350433.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 233,
"cds_start": 359,
"cds_end": null,
"cds_length": 702,
"cdna_start": 504,
"cdna_end": null,
"cdna_length": 2323,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363504.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP4",
"gene_hgnc_id": 30083,
"hgvs_c": "c.347A>G",
"hgvs_p": "p.Asn116Ser",
"transcript": "NM_147183.3",
"protein_id": "NP_671712.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 229,
"cds_start": 347,
"cds_end": null,
"cds_length": 690,
"cdna_start": 347,
"cdna_end": null,
"cdna_length": 2156,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_147183.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP4",
"gene_hgnc_id": 30083,
"hgvs_c": "c.335A>G",
"hgvs_p": "p.Asn112Ser",
"transcript": "NM_001035003.2",
"protein_id": "NP_001030175.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 225,
"cds_start": 335,
"cds_end": null,
"cds_length": 678,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 2457,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001035003.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP4",
"gene_hgnc_id": 30083,
"hgvs_c": "c.308A>G",
"hgvs_p": "p.Asn103Ser",
"transcript": "NM_147181.4",
"protein_id": "NP_671710.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 216,
"cds_start": 308,
"cds_end": null,
"cds_length": 651,
"cdna_start": 449,
"cdna_end": null,
"cdna_length": 2268,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_147181.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP4",
"gene_hgnc_id": 30083,
"hgvs_c": "c.308A>G",
"hgvs_p": "p.Asn103Ser",
"transcript": "ENST00000447367.6",
"protein_id": "ENSP00000399080.2",
"transcript_support_level": 5,
"aa_start": 103,
"aa_end": null,
"aa_length": 216,
"cds_start": 308,
"cds_end": null,
"cds_length": 651,
"cdna_start": 422,
"cdna_end": null,
"cdna_length": 1641,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447367.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP4",
"gene_hgnc_id": 30083,
"hgvs_c": "c.224A>G",
"hgvs_p": "p.Asn75Ser",
"transcript": "NM_001035004.2",
"protein_id": "NP_001030176.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 188,
"cds_start": 224,
"cds_end": null,
"cds_length": 567,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 2367,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001035004.2"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP4",
"gene_hgnc_id": 30083,
"hgvs_c": "c.224A>G",
"hgvs_p": "p.Asn75Ser",
"transcript": "NM_147182.4",
"protein_id": "NP_671711.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 188,
"cds_start": 224,
"cds_end": null,
"cds_length": 567,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 2380,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_147182.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP4",
"gene_hgnc_id": 30083,
"hgvs_c": "c.335A>G",
"hgvs_p": "p.Asn112Ser",
"transcript": "XM_011513885.4",
"protein_id": "XP_011512187.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 232,
"cds_start": 335,
"cds_end": null,
"cds_length": 699,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 4333,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513885.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PACRGL",
"gene_hgnc_id": 28442,
"hgvs_c": "c.*57-2884T>C",
"hgvs_p": null,
"transcript": "ENST00000507634.5",
"protein_id": "ENSP00000425938.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 221,
"cds_start": null,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1142,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507634.5"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP4",
"gene_hgnc_id": 30083,
"hgvs_c": "n.*315A>G",
"hgvs_p": null,
"transcript": "ENST00000515786.2",
"protein_id": "ENSP00000445321.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 763,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000515786.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNIP4",
"gene_hgnc_id": 30083,
"hgvs_c": "n.*315A>G",
"hgvs_p": null,
"transcript": "ENST00000515786.2",
"protein_id": "ENSP00000445321.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 763,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000515786.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PACRGL",
"gene_hgnc_id": 28442,
"hgvs_c": "n.*57-2884T>C",
"hgvs_p": null,
"transcript": "ENST00000467997.6",
"protein_id": "ENSP00000423477.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1373,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000467997.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PACRGL",
"gene_hgnc_id": 28442,
"hgvs_c": "n.*57-2884T>C",
"hgvs_p": null,
"transcript": "ENST00000471979.6",
"protein_id": "ENSP00000423914.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1394,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000471979.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PACRGL",
"gene_hgnc_id": 28442,
"hgvs_c": "n.*57-2884T>C",
"hgvs_p": null,
"transcript": "ENST00000506702.5",
"protein_id": "ENSP00000423536.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1233,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000506702.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PACRGL",
"gene_hgnc_id": 28442,
"hgvs_c": "n.1052-2884T>C",
"hgvs_p": null,
"transcript": "NR_133933.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1387,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_133933.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PACRGL",
"gene_hgnc_id": 28442,
"hgvs_c": "n.1277-2884T>C",
"hgvs_p": null,
"transcript": "XR_001741142.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1612,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001741142.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
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{
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{
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],
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}