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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: 3-15568516-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=15568516&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 15568516,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_012260.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1166C>G",
"hgvs_p": "p.Pro389Arg",
"transcript": "NM_012260.4",
"protein_id": "NP_036392.2",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 578,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 2009,
"mane_select": "ENST00000321169.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012260.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1166C>G",
"hgvs_p": "p.Pro389Arg",
"transcript": "ENST00000321169.10",
"protein_id": "ENSP00000323811.5",
"transcript_support_level": 1,
"aa_start": 389,
"aa_end": null,
"aa_length": 578,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 2009,
"mane_select": "NM_012260.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321169.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "n.*627C>G",
"hgvs_p": null,
"transcript": "ENST00000383779.8",
"protein_id": "ENSP00000373289.4",
"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": 1771,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000383779.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "n.*627C>G",
"hgvs_p": null,
"transcript": "ENST00000383779.8",
"protein_id": "ENSP00000373289.4",
"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": 1771,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000383779.8"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1403C>G",
"hgvs_p": "p.Pro468Arg",
"transcript": "ENST00000900336.1",
"protein_id": "ENSP00000570395.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 657,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 1516,
"cdna_end": null,
"cdna_length": 2181,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900336.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1358C>G",
"hgvs_p": "p.Pro453Arg",
"transcript": "ENST00000900333.1",
"protein_id": "ENSP00000570392.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 642,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 1710,
"cdna_end": null,
"cdna_length": 2375,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900333.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1286C>G",
"hgvs_p": "p.Pro429Arg",
"transcript": "ENST00000947235.1",
"protein_id": "ENSP00000617294.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 618,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1399,
"cdna_end": null,
"cdna_length": 2002,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947235.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1166C>G",
"hgvs_p": "p.Pro389Arg",
"transcript": "ENST00000947232.1",
"protein_id": "ENSP00000617291.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 598,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 2020,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947232.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1124C>G",
"hgvs_p": "p.Pro375Arg",
"transcript": "ENST00000900337.1",
"protein_id": "ENSP00000570396.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 564,
"cds_start": 1124,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 1233,
"cdna_end": null,
"cdna_length": 1898,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900337.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1124C>G",
"hgvs_p": "p.Pro375Arg",
"transcript": "ENST00000936952.1",
"protein_id": "ENSP00000607011.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 564,
"cds_start": 1124,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 1939,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936952.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1088C>G",
"hgvs_p": "p.Pro363Arg",
"transcript": "ENST00000900332.1",
"protein_id": "ENSP00000570391.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 552,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1508,
"cdna_end": null,
"cdna_length": 2362,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900332.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1085C>G",
"hgvs_p": "p.Pro362Arg",
"transcript": "NM_001284413.2",
"protein_id": "NP_001271342.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 551,
"cds_start": 1085,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 1928,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284413.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1085C>G",
"hgvs_p": "p.Pro362Arg",
"transcript": "ENST00000456194.6",
"protein_id": "ENSP00000390699.2",
"transcript_support_level": 2,
"aa_start": 362,
"aa_end": null,
"aa_length": 551,
"cds_start": 1085,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 1880,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456194.6"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1082C>G",
"hgvs_p": "p.Pro361Arg",
"transcript": "ENST00000900338.1",
"protein_id": "ENSP00000570397.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 550,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1653,
"cdna_start": 1188,
"cdna_end": null,
"cdna_length": 1853,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900338.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1064C>G",
"hgvs_p": "p.Pro355Arg",
"transcript": "ENST00000900339.1",
"protein_id": "ENSP00000570398.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 544,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1170,
"cdna_end": null,
"cdna_length": 1835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900339.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1052C>G",
"hgvs_p": "p.Pro351Arg",
"transcript": "ENST00000936953.1",
"protein_id": "ENSP00000607012.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 540,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 1853,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936953.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1052C>G",
"hgvs_p": "p.Pro351Arg",
"transcript": "ENST00000947231.1",
"protein_id": "ENSP00000617290.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 540,
"cds_start": 1052,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 1165,
"cdna_end": null,
"cdna_length": 1856,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947231.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1046C>G",
"hgvs_p": "p.Pro349Arg",
"transcript": "ENST00000936950.1",
"protein_id": "ENSP00000607009.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 538,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1617,
"cdna_start": 1401,
"cdna_end": null,
"cdna_length": 2088,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936950.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1040C>G",
"hgvs_p": "p.Pro347Arg",
"transcript": "ENST00000947234.1",
"protein_id": "ENSP00000617293.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 536,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 1808,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947234.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.1007C>G",
"hgvs_p": "p.Pro336Arg",
"transcript": "ENST00000900340.1",
"protein_id": "ENSP00000570399.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 525,
"cds_start": 1007,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 1778,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900340.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.986C>G",
"hgvs_p": "p.Pro329Arg",
"transcript": "NM_001284415.2",
"protein_id": "NP_001271344.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 518,
"cds_start": 986,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1092,
"cdna_end": null,
"cdna_length": 1829,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284415.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACL1",
"gene_hgnc_id": 17856,
"hgvs_c": "c.986C>G",
"hgvs_p": "p.Pro329Arg",
"transcript": "ENST00000457447.6",
"protein_id": "ENSP00000404883.2",
"transcript_support_level": 2,
"aa_start": 329,
"aa_end": null,
"aa_length": 518,
"cds_start": 986,
"cds_end": null,
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}