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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: 14-51900357-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=51900357&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 51900357,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000556766.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GNG2",
"gene_hgnc_id": 4404,
"hgvs_c": "c.-30+22700C>T",
"hgvs_p": null,
"transcript": "NM_053064.5",
"protein_id": "NP_444292.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 71,
"cds_start": -4,
"cds_end": null,
"cds_length": 216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3573,
"mane_select": "ENST00000556766.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GNG2",
"gene_hgnc_id": 4404,
"hgvs_c": "c.-30+22700C>T",
"hgvs_p": null,
"transcript": "ENST00000556766.6",
"protein_id": "ENSP00000451231.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 71,
"cds_start": -4,
"cds_end": null,
"cds_length": 216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3573,
"mane_select": "NM_053064.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GNG2",
"gene_hgnc_id": 4404,
"hgvs_c": "c.-30+22700C>T",
"hgvs_p": null,
"transcript": "ENST00000556752.2",
"protein_id": "ENSP00000451576.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 71,
"cds_start": -4,
"cds_end": null,
"cds_length": 216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GNG2",
"gene_hgnc_id": 4404,
"hgvs_c": "n.387+22700C>T",
"hgvs_p": null,
"transcript": "ENST00000553299.5",
"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": 1542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNG2",
"gene_hgnc_id": 4404,
"hgvs_c": "c.-823C>T",
"hgvs_p": null,
"transcript": "XM_047431487.1",
"protein_id": "XP_047287443.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 71,
"cds_start": -4,
"cds_end": null,
"cds_length": 216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNG2",
"gene_hgnc_id": 4404,
"hgvs_c": "c.-1134C>T",
"hgvs_p": null,
"transcript": "XM_047431488.1",
"protein_id": "XP_047287444.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 71,
"cds_start": -4,
"cds_end": null,
"cds_length": 216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNG2",
"gene_hgnc_id": 4404,
"hgvs_c": "c.-823C>T",
"hgvs_p": null,
"transcript": "XM_047431487.1",
"protein_id": "XP_047287443.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 71,
"cds_start": -4,
"cds_end": null,
"cds_length": 216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNG2",
"gene_hgnc_id": 4404,
"hgvs_c": "c.-1134C>T",
"hgvs_p": null,
"transcript": "XM_047431488.1",
"protein_id": "XP_047287444.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 71,
"cds_start": -4,
"cds_end": null,
"cds_length": 216,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GNG2",
"gene_hgnc_id": 4404,
"hgvs_c": "c.89-50293C>T",
"hgvs_p": null,
"transcript": "ENST00000557376.5",
"protein_id": "ENSP00000450758.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 110,
"cds_start": -4,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GNG2",
"gene_hgnc_id": 4404,
"hgvs_c": "c.65-50293C>T",
"hgvs_p": null,
"transcript": "ENST00000553432.5",
"protein_id": "ENSP00000451279.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 102,
"cds_start": -4,
"cds_end": null,
"cds_length": 309,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GNG2",
"gene_hgnc_id": 4404,
"hgvs_c": "c.-30+22700C>T",
"hgvs_p": null,
"transcript": "NM_001243773.2",
"protein_id": "NP_001230702.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 71,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3569,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GNG2",
"gene_hgnc_id": 4404,
"hgvs_c": "c.-30+39567C>T",
"hgvs_p": null,
"transcript": "NM_001243774.2",
"protein_id": "NP_001230703.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GNG2",
"gene_hgnc_id": 4404,
"hgvs_c": "c.-30+22700C>T",
"hgvs_p": null,
"transcript": "NM_001389707.1",
"protein_id": "NP_001376636.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 71,
"cds_start": -4,
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"cdna_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GNG2",
"gene_hgnc_id": 4404,
"hgvs_c": "c.-30+22700C>T",
"hgvs_p": null,
"transcript": "NM_001389708.1",
"protein_id": "NP_001376637.1",
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},
{
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"strand": true,
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],
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"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "GNG2",
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"hgvs_c": "c.-30+22700C>T",
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"transcript": "NM_001389709.1",
"protein_id": "NP_001376638.1",
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
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"gene_symbol": "GNG2",
"gene_hgnc_id": 4404,
"hgvs_c": "c.-30+22700C>T",
"hgvs_p": null,
"transcript": "NM_001389710.1",
"protein_id": "NP_001376639.1",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "GNG2",
"gene_hgnc_id": 4404,
"hgvs_c": "c.-30+39567C>T",
"hgvs_p": null,
"transcript": "ENST00000335281.8",
"protein_id": "ENSP00000334448.4",
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"aa_start": null,
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"aa_length": 71,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GNG2",
"gene_hgnc_id": 4404,
"hgvs_c": "c.-30+22700C>T",
"hgvs_p": null,
"transcript": "ENST00000554736.5",
"protein_id": "ENSP00000452014.1",
"transcript_support_level": 4,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GNG2",
"gene_hgnc_id": 4404,
"hgvs_c": "c.-149-12652C>T",
"hgvs_p": null,
"transcript": "ENST00000555472.5",
"protein_id": "ENSP00000451102.1",
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},
{
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],
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"gene_symbol": "GNG2",
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"hgvs_c": "c.-341+22700C>T",
"hgvs_p": null,
"transcript": "ENST00000615906.4",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "GNG2",
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"hgvs_c": "c.-30+22700C>T",
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"transcript": "ENST00000553560.5",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GNG2",
"gene_hgnc_id": 4404,
"hgvs_c": "n.249-12652C>T",
"hgvs_p": null,
"transcript": "ENST00000554832.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GNG2",
"gene_hgnc_id": 4404,
"hgvs_c": "n.98+22700C>T",
"hgvs_p": null,
"transcript": "ENST00000554840.5",
"protein_id": null,
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"aa_start": null,
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},
{
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}