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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: 13-32402989-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=32402989&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 32402989,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001353627.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.685A>G",
"hgvs_p": "p.Asn229Asp",
"transcript": "NM_052818.3",
"protein_id": "NP_438169.2",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 243,
"cds_start": 685,
"cds_end": null,
"cds_length": 732,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 2999,
"mane_select": "ENST00000380130.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052818.3"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.685A>G",
"hgvs_p": "p.Asn229Asp",
"transcript": "ENST00000380130.7",
"protein_id": "ENSP00000369473.2",
"transcript_support_level": 1,
"aa_start": 229,
"aa_end": null,
"aa_length": 243,
"cds_start": 685,
"cds_end": null,
"cds_length": 732,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 2999,
"mane_select": "NM_052818.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380130.7"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.685A>G",
"hgvs_p": "p.Asn229Asp",
"transcript": "ENST00000380133.6",
"protein_id": "ENSP00000369476.2",
"transcript_support_level": 1,
"aa_start": 229,
"aa_end": null,
"aa_length": 243,
"cds_start": 685,
"cds_end": null,
"cds_length": 732,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 903,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380133.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.*155A>G",
"hgvs_p": null,
"transcript": "ENST00000380139.8",
"protein_id": "ENSP00000369484.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 173,
"cds_start": null,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2994,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380139.8"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.961A>G",
"hgvs_p": "p.Asn321Asp",
"transcript": "NM_001353627.2",
"protein_id": "NP_001340556.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 335,
"cds_start": 961,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 3275,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353627.2"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.727A>G",
"hgvs_p": "p.Asn243Asp",
"transcript": "NM_001353629.2",
"protein_id": "NP_001340558.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 257,
"cds_start": 727,
"cds_end": null,
"cds_length": 774,
"cdna_start": 1215,
"cdna_end": null,
"cdna_length": 3481,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353629.2"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.685A>G",
"hgvs_p": "p.Asn229Asp",
"transcript": "NM_001286459.2",
"protein_id": "NP_001273388.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 243,
"cds_start": 685,
"cds_end": null,
"cds_length": 732,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 1993,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286459.2"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.682A>G",
"hgvs_p": "p.Asn228Asp",
"transcript": "ENST00000970430.1",
"protein_id": "ENSP00000640489.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 242,
"cds_start": 682,
"cds_end": null,
"cds_length": 729,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 1566,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970430.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.607A>G",
"hgvs_p": "p.Asn203Asp",
"transcript": "ENST00000970429.1",
"protein_id": "ENSP00000640488.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 217,
"cds_start": 607,
"cds_end": null,
"cds_length": 654,
"cdna_start": 655,
"cdna_end": null,
"cdna_length": 1905,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970429.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.517A>G",
"hgvs_p": "p.Asn173Asp",
"transcript": "NM_001353633.2",
"protein_id": "NP_001340562.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 187,
"cds_start": 517,
"cds_end": null,
"cds_length": 564,
"cdna_start": 804,
"cdna_end": null,
"cdna_length": 3070,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353633.2"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.367A>G",
"hgvs_p": "p.Asn123Asp",
"transcript": "ENST00000530622.6",
"protein_id": "ENSP00000435515.2",
"transcript_support_level": 5,
"aa_start": 123,
"aa_end": null,
"aa_length": 137,
"cds_start": 367,
"cds_end": null,
"cds_length": 414,
"cdna_start": 585,
"cdna_end": null,
"cdna_length": 1897,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530622.6"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.958A>G",
"hgvs_p": "p.Asn320Asp",
"transcript": "XM_047430761.1",
"protein_id": "XP_047286717.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 334,
"cds_start": 958,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 4882,
"cdna_end": null,
"cdna_length": 7148,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430761.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.727A>G",
"hgvs_p": "p.Asn243Asp",
"transcript": "XM_017020838.3",
"protein_id": "XP_016876327.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 257,
"cds_start": 727,
"cds_end": null,
"cds_length": 774,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 3717,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020838.3"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.592A>G",
"hgvs_p": "p.Asn198Asp",
"transcript": "XM_011535303.3",
"protein_id": "XP_011533605.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 212,
"cds_start": 592,
"cds_end": null,
"cds_length": 639,
"cdna_start": 1343,
"cdna_end": null,
"cdna_length": 3609,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535303.3"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.517A>G",
"hgvs_p": "p.Asn173Asp",
"transcript": "XM_047430764.1",
"protein_id": "XP_047286720.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 187,
"cds_start": 517,
"cds_end": null,
"cds_length": 564,
"cdna_start": 666,
"cdna_end": null,
"cdna_length": 2932,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430764.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.*155A>G",
"hgvs_p": null,
"transcript": "NM_001353628.2",
"protein_id": "NP_001340557.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 265,
"cds_start": null,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3267,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353628.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.*168A>G",
"hgvs_p": null,
"transcript": "NM_001353630.2",
"protein_id": "NP_001340559.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 204,
"cds_start": null,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353630.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.*224A>G",
"hgvs_p": null,
"transcript": "NM_001353631.2",
"protein_id": "NP_001340560.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 202,
"cds_start": null,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3587,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353631.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.*224A>G",
"hgvs_p": null,
"transcript": "NM_001353632.2",
"protein_id": "NP_001340561.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 188,
"cds_start": null,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3105,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353632.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.*155A>G",
"hgvs_p": null,
"transcript": "NM_001079691.2",
"protein_id": "NP_001073159.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 173,
"cds_start": null,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2991,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001079691.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.*155A>G",
"hgvs_p": null,
"transcript": "ENST00000613078.4",
"protein_id": "ENSP00000483310.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 173,
"cds_start": null,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2032,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613078.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "N4BP2L1",
"gene_hgnc_id": 25037,
"hgvs_c": "c.*224A>G",
"hgvs_p": null,
"transcript": "ENST00000635608.1",
"protein_id": "ENSP00000489423.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 165,
"cds_start": null,
"cds_end": null,
"cds_length": 498,
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"phenotype_combined": "not specified",
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}
],
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}