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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: 5-178211964-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=178211964&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 178211964,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000308158.10",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1310A>C",
"hgvs_p": "p.Glu437Ala",
"transcript": "NM_153373.4",
"protein_id": "NP_699204.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 450,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 1562,
"cdna_end": null,
"cdna_length": 2081,
"mane_select": "ENST00000308158.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1310A>C",
"hgvs_p": "p.Glu437Ala",
"transcript": "ENST00000308158.10",
"protein_id": "ENSP00000310978.5",
"transcript_support_level": 1,
"aa_start": 437,
"aa_end": null,
"aa_length": 450,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 1562,
"cdna_end": null,
"cdna_length": 2081,
"mane_select": "NM_153373.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "n.*698A>C",
"hgvs_p": null,
"transcript": "ENST00000474052.5",
"protein_id": "ENSP00000423806.1",
"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": 1539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "n.1951A>C",
"hgvs_p": null,
"transcript": "ENST00000494126.6",
"protein_id": null,
"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": 2297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "n.*698A>C",
"hgvs_p": null,
"transcript": "ENST00000474052.5",
"protein_id": "ENSP00000423806.1",
"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": 1539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1352A>C",
"hgvs_p": "p.Glu451Ala",
"transcript": "ENST00000323594.9",
"protein_id": "ENSP00000321290.5",
"transcript_support_level": 5,
"aa_start": 451,
"aa_end": null,
"aa_length": 464,
"cds_start": 1352,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1432,
"cdna_end": null,
"cdna_length": 3278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1187A>C",
"hgvs_p": "p.Glu396Ala",
"transcript": "NM_001278346.1",
"protein_id": "NP_001265275.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 409,
"cds_start": 1187,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 2405,
"cdna_end": null,
"cdna_length": 2921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1340A>C",
"hgvs_p": "p.Glu447Ala",
"transcript": "XM_011534669.3",
"protein_id": "XP_011532971.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 460,
"cds_start": 1340,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 1592,
"cdna_end": null,
"cdna_length": 2111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1337A>C",
"hgvs_p": "p.Glu446Ala",
"transcript": "XM_011534670.4",
"protein_id": "XP_011532972.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 459,
"cds_start": 1337,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 2316,
"cdna_end": null,
"cdna_length": 2835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1328A>C",
"hgvs_p": "p.Glu443Ala",
"transcript": "XM_011534671.3",
"protein_id": "XP_011532973.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 456,
"cds_start": 1328,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 1580,
"cdna_end": null,
"cdna_length": 2099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1307A>C",
"hgvs_p": "p.Glu436Ala",
"transcript": "XM_047417837.1",
"protein_id": "XP_047273793.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 449,
"cds_start": 1307,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 2286,
"cdna_end": null,
"cdna_length": 2805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1184A>C",
"hgvs_p": "p.Glu395Ala",
"transcript": "XM_006714925.3",
"protein_id": "XP_006714988.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 408,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 1436,
"cdna_end": null,
"cdna_length": 1955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1067A>C",
"hgvs_p": "p.Glu356Ala",
"transcript": "XM_024446240.2",
"protein_id": "XP_024302008.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 369,
"cds_start": 1067,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 1319,
"cdna_end": null,
"cdna_length": 1838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.1064A>C",
"hgvs_p": "p.Glu355Ala",
"transcript": "XM_047417838.1",
"protein_id": "XP_047273794.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 368,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1107,
"cdna_start": 2043,
"cdna_end": null,
"cdna_length": 2562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.995A>C",
"hgvs_p": "p.Glu332Ala",
"transcript": "XM_011534674.3",
"protein_id": "XP_011532976.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 345,
"cds_start": 995,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1247,
"cdna_end": null,
"cdna_length": 1766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.782A>C",
"hgvs_p": "p.Glu261Ala",
"transcript": "XM_024446243.2",
"protein_id": "XP_024302011.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 274,
"cds_start": 782,
"cds_end": null,
"cds_length": 825,
"cdna_start": 3474,
"cdna_end": null,
"cdna_length": 3993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.746A>C",
"hgvs_p": "p.Glu249Ala",
"transcript": "XM_024446245.2",
"protein_id": "XP_024302013.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 262,
"cds_start": 746,
"cds_end": null,
"cds_length": 789,
"cdna_start": 3471,
"cdna_end": null,
"cdna_length": 3990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.743A>C",
"hgvs_p": "p.Glu248Ala",
"transcript": "XM_024446247.2",
"protein_id": "XP_024302015.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 261,
"cds_start": 743,
"cds_end": null,
"cds_length": 786,
"cdna_start": 1748,
"cdna_end": null,
"cdna_length": 2267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "c.716A>C",
"hgvs_p": "p.Glu239Ala",
"transcript": "XM_024446250.2",
"protein_id": "XP_024302018.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 252,
"cds_start": 716,
"cds_end": null,
"cds_length": 759,
"cdna_start": 3441,
"cdna_end": null,
"cdna_length": 3960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "n.503A>C",
"hgvs_p": null,
"transcript": "ENST00000393488.2",
"protein_id": "ENSP00000377128.2",
"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": 1001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "n.1255A>C",
"hgvs_p": null,
"transcript": "ENST00000476487.5",
"protein_id": null,
"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": 2251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "n.1534A>C",
"hgvs_p": null,
"transcript": "ENST00000481436.5",
"protein_id": null,
"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": 2025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHYKPL",
"gene_hgnc_id": 28249,
"hgvs_c": "n.2303A>C",
"hgvs_p": null,
"transcript": "ENST00000481811.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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