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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: 2-15604448-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=15604448&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 15604448,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004939.3",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.564G>T",
"hgvs_p": "p.Met188Ile",
"transcript": "NM_004939.3",
"protein_id": "NP_004930.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 740,
"cds_start": 564,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 2484,
"mane_select": "ENST00000233084.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004939.3"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.564G>T",
"hgvs_p": "p.Met188Ile",
"transcript": "ENST00000233084.8",
"protein_id": "ENSP00000233084.3",
"transcript_support_level": 1,
"aa_start": 188,
"aa_end": null,
"aa_length": 740,
"cds_start": 564,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 2484,
"mane_select": "NM_004939.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000233084.8"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.288G>T",
"hgvs_p": "p.Met96Ile",
"transcript": "ENST00000617198.5",
"protein_id": "ENSP00000482416.2",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 648,
"cds_start": 288,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 530,
"cdna_end": null,
"cdna_length": 2384,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617198.5"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.564G>T",
"hgvs_p": "p.Met188Ile",
"transcript": "ENST00000381341.7",
"protein_id": "ENSP00000370745.1",
"transcript_support_level": 5,
"aa_start": 188,
"aa_end": null,
"aa_length": 740,
"cds_start": 564,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381341.7"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.564G>T",
"hgvs_p": "p.Met188Ile",
"transcript": "ENST00000434671.2",
"protein_id": "ENSP00000413767.2",
"transcript_support_level": 4,
"aa_start": 188,
"aa_end": null,
"aa_length": 740,
"cds_start": 564,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 966,
"cdna_end": null,
"cdna_length": 2820,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434671.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.564G>T",
"hgvs_p": "p.Met188Ile",
"transcript": "ENST00000955719.1",
"protein_id": "ENSP00000625778.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 740,
"cds_start": 564,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 2480,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955719.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.564G>T",
"hgvs_p": "p.Met188Ile",
"transcript": "ENST00000911867.1",
"protein_id": "ENSP00000581926.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 739,
"cds_start": 564,
"cds_end": null,
"cds_length": 2220,
"cdna_start": 686,
"cdna_end": null,
"cdna_length": 2547,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911867.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.564G>T",
"hgvs_p": "p.Met188Ile",
"transcript": "ENST00000955718.1",
"protein_id": "ENSP00000625777.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 738,
"cds_start": 564,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 2506,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955718.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.546G>T",
"hgvs_p": "p.Met182Ile",
"transcript": "ENST00000676916.1",
"protein_id": "ENSP00000503949.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 734,
"cds_start": 546,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 2504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676916.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.564G>T",
"hgvs_p": "p.Met188Ile",
"transcript": "ENST00000678137.1",
"protein_id": "ENSP00000503001.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 729,
"cds_start": 564,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 2451,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678137.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.564G>T",
"hgvs_p": "p.Met188Ile",
"transcript": "ENST00000904578.1",
"protein_id": "ENSP00000574637.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 725,
"cds_start": 564,
"cds_end": null,
"cds_length": 2178,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 2457,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904578.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.480G>T",
"hgvs_p": "p.Met160Ile",
"transcript": "ENST00000904579.1",
"protein_id": "ENSP00000574638.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 712,
"cds_start": 480,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 535,
"cdna_end": null,
"cdna_length": 2397,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904579.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.564G>T",
"hgvs_p": "p.Met188Ile",
"transcript": "ENST00000955720.1",
"protein_id": "ENSP00000625779.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 710,
"cds_start": 564,
"cds_end": null,
"cds_length": 2133,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 2378,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955720.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.435G>T",
"hgvs_p": "p.Met145Ile",
"transcript": "ENST00000676937.1",
"protein_id": "ENSP00000503720.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 697,
"cds_start": 435,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 2538,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676937.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.435G>T",
"hgvs_p": "p.Met145Ile",
"transcript": "ENST00000678594.1",
"protein_id": "ENSP00000502982.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 697,
"cds_start": 435,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 611,
"cdna_end": null,
"cdna_length": 2465,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678594.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.564G>T",
"hgvs_p": "p.Met188Ile",
"transcript": "ENST00000904580.1",
"protein_id": "ENSP00000574639.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 691,
"cds_start": 564,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 2322,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904580.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.564G>T",
"hgvs_p": "p.Met188Ile",
"transcript": "ENST00000678786.1",
"protein_id": "ENSP00000502926.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 677,
"cds_start": 564,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 2430,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678786.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.252G>T",
"hgvs_p": "p.Met84Ile",
"transcript": "ENST00000621973.2",
"protein_id": "ENSP00000484958.2",
"transcript_support_level": 5,
"aa_start": 84,
"aa_end": null,
"aa_length": 636,
"cds_start": 252,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 2312,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621973.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "c.171G>T",
"hgvs_p": "p.Met57Ile",
"transcript": "ENST00000904581.1",
"protein_id": "ENSP00000574640.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 609,
"cds_start": 171,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 2076,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904581.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "n.630G>T",
"hgvs_p": null,
"transcript": "ENST00000459706.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 3354,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000459706.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "n.629G>T",
"hgvs_p": null,
"transcript": "ENST00000470674.2",
"protein_id": null,
"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": 5418,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000470674.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX1",
"gene_hgnc_id": 2734,
"hgvs_c": "n.765G>T",
"hgvs_p": null,
"transcript": "ENST00000478695.2",
"protein_id": null,
"transcript_support_level": 4,
"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": 4038,
"mane_select": null,
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}