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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: 16-5077459-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=5077459&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 5077459,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_019109.5",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.554T>C",
"hgvs_p": "p.Phe185Ser",
"transcript": "NM_019109.5",
"protein_id": "NP_061982.3",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 464,
"cds_start": 554,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 3900,
"mane_select": "ENST00000262374.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019109.5"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.554T>C",
"hgvs_p": "p.Phe185Ser",
"transcript": "ENST00000262374.10",
"protein_id": "ENSP00000262374.5",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 464,
"cds_start": 554,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 3900,
"mane_select": "NM_019109.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262374.10"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.221T>C",
"hgvs_p": "p.Phe74Ser",
"transcript": "ENST00000588623.5",
"protein_id": "ENSP00000468118.1",
"transcript_support_level": 1,
"aa_start": 74,
"aa_end": null,
"aa_length": 353,
"cds_start": 221,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 1321,
"cdna_end": null,
"cdna_length": 2671,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588623.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.*455T>C",
"hgvs_p": null,
"transcript": "ENST00000591822.5",
"protein_id": "ENSP00000467865.1",
"transcript_support_level": 1,
"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": 1689,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000591822.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.*455T>C",
"hgvs_p": null,
"transcript": "ENST00000591822.5",
"protein_id": "ENSP00000467865.1",
"transcript_support_level": 1,
"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": 1689,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000591822.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.-41T>C",
"hgvs_p": null,
"transcript": "ENST00000682020.1",
"protein_id": "ENSP00000508075.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 266,
"cds_start": null,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2519,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682020.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.-41T>C",
"hgvs_p": null,
"transcript": "ENST00000683433.1",
"protein_id": "ENSP00000507463.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 217,
"cds_start": null,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2345,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683433.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.554T>C",
"hgvs_p": "p.Phe185Ser",
"transcript": "ENST00000940711.1",
"protein_id": "ENSP00000610770.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 475,
"cds_start": 554,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 580,
"cdna_end": null,
"cdna_length": 2148,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940711.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.554T>C",
"hgvs_p": "p.Phe185Ser",
"transcript": "ENST00000902497.1",
"protein_id": "ENSP00000572556.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 472,
"cds_start": 554,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902497.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.554T>C",
"hgvs_p": "p.Phe185Ser",
"transcript": "ENST00000940712.1",
"protein_id": "ENSP00000610771.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 461,
"cds_start": 554,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 1913,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940712.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.554T>C",
"hgvs_p": "p.Phe185Ser",
"transcript": "ENST00000961949.1",
"protein_id": "ENSP00000632008.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 452,
"cds_start": 554,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 579,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961949.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.554T>C",
"hgvs_p": "p.Phe185Ser",
"transcript": "NM_001438123.1",
"protein_id": "NP_001425052.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 451,
"cds_start": 554,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 3861,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438123.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.554T>C",
"hgvs_p": "p.Phe185Ser",
"transcript": "ENST00000684190.1",
"protein_id": "ENSP00000507554.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 451,
"cds_start": 554,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 598,
"cdna_end": null,
"cdna_length": 2051,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684190.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.554T>C",
"hgvs_p": "p.Phe185Ser",
"transcript": "ENST00000902499.1",
"protein_id": "ENSP00000572558.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 444,
"cds_start": 554,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 1498,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902499.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.554T>C",
"hgvs_p": "p.Phe185Ser",
"transcript": "ENST00000684335.1",
"protein_id": "ENSP00000508112.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 427,
"cds_start": 554,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 598,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684335.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.554T>C",
"hgvs_p": "p.Phe185Ser",
"transcript": "ENST00000902498.1",
"protein_id": "ENSP00000572557.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 427,
"cds_start": 554,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 1994,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902498.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.554T>C",
"hgvs_p": "p.Phe185Ser",
"transcript": "ENST00000961948.1",
"protein_id": "ENSP00000632007.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 414,
"cds_start": 554,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 1777,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961948.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.554T>C",
"hgvs_p": "p.Phe185Ser",
"transcript": "ENST00000940713.1",
"protein_id": "ENSP00000610772.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 407,
"cds_start": 554,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940713.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.221T>C",
"hgvs_p": "p.Phe74Ser",
"transcript": "NM_001330504.2",
"protein_id": "NP_001317433.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 353,
"cds_start": 221,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 402,
"cdna_end": null,
"cdna_length": 3741,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330504.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.221T>C",
"hgvs_p": "p.Phe74Ser",
"transcript": "ENST00000544428.1",
"protein_id": "ENSP00000440019.1",
"transcript_support_level": 2,
"aa_start": 74,
"aa_end": null,
"aa_length": 353,
"cds_start": 221,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 402,
"cdna_end": null,
"cdna_length": 1419,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544428.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.221T>C",
"hgvs_p": "p.Phe74Ser",
"transcript": "ENST00000683739.1",
"protein_id": "ENSP00000507002.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 353,
"cds_start": 221,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 2058,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683739.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "c.65T>C",
"hgvs_p": "p.Phe22Ser",
"transcript": "ENST00000682985.1",
"protein_id": "ENSP00000507598.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 301,
"cds_start": 65,
"cds_end": null,
"cds_length": 906,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 2668,
"mane_select": null,
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}
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}