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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: 7-7234380-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=7234380&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 7234380,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020156.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1GALT1",
"gene_hgnc_id": 24337,
"hgvs_c": "c.61C>A",
"hgvs_p": "p.Leu21Ile",
"transcript": "NM_020156.5",
"protein_id": "NP_064541.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 363,
"cds_start": 61,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000436587.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020156.5"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1GALT1",
"gene_hgnc_id": 24337,
"hgvs_c": "c.61C>A",
"hgvs_p": "p.Leu21Ile",
"transcript": "ENST00000436587.7",
"protein_id": "ENSP00000389176.2",
"transcript_support_level": 5,
"aa_start": 21,
"aa_end": null,
"aa_length": 363,
"cds_start": 61,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020156.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436587.7"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1GALT1",
"gene_hgnc_id": 24337,
"hgvs_c": "c.61C>A",
"hgvs_p": "p.Leu21Ile",
"transcript": "ENST00000223122.4",
"protein_id": "ENSP00000223122.2",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 363,
"cds_start": 61,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000223122.4"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1GALT1",
"gene_hgnc_id": 24337,
"hgvs_c": "c.61C>A",
"hgvs_p": "p.Leu21Ile",
"transcript": "ENST00000402468.3",
"protein_id": "ENSP00000384550.3",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 309,
"cds_start": 61,
"cds_end": null,
"cds_length": 930,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402468.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1GALT1",
"gene_hgnc_id": 24337,
"hgvs_c": "n.269C>A",
"hgvs_p": null,
"transcript": "ENST00000476068.1",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000476068.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1GALT1",
"gene_hgnc_id": 24337,
"hgvs_c": "c.61C>A",
"hgvs_p": "p.Leu21Ile",
"transcript": "ENST00000910742.1",
"protein_id": "ENSP00000580801.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 363,
"cds_start": 61,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910742.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1GALT1",
"gene_hgnc_id": 24337,
"hgvs_c": "c.61C>A",
"hgvs_p": "p.Leu21Ile",
"transcript": "ENST00000910743.1",
"protein_id": "ENSP00000580802.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 363,
"cds_start": 61,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910743.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1GALT1",
"gene_hgnc_id": 24337,
"hgvs_c": "c.61C>A",
"hgvs_p": "p.Leu21Ile",
"transcript": "ENST00000910744.1",
"protein_id": "ENSP00000580803.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 363,
"cds_start": 61,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910744.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1GALT1",
"gene_hgnc_id": 24337,
"hgvs_c": "c.61C>A",
"hgvs_p": "p.Leu21Ile",
"transcript": "ENST00000910745.1",
"protein_id": "ENSP00000580804.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 363,
"cds_start": 61,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910745.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1GALT1",
"gene_hgnc_id": 24337,
"hgvs_c": "c.61C>A",
"hgvs_p": "p.Leu21Ile",
"transcript": "ENST00000910746.1",
"protein_id": "ENSP00000580805.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 363,
"cds_start": 61,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910746.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1GALT1",
"gene_hgnc_id": 24337,
"hgvs_c": "c.61C>A",
"hgvs_p": "p.Leu21Ile",
"transcript": "ENST00000910747.1",
"protein_id": "ENSP00000580806.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 363,
"cds_start": 61,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910747.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1GALT1",
"gene_hgnc_id": 24337,
"hgvs_c": "c.61C>A",
"hgvs_p": "p.Leu21Ile",
"transcript": "ENST00000910748.1",
"protein_id": "ENSP00000580807.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 363,
"cds_start": 61,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910748.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1GALT1",
"gene_hgnc_id": 24337,
"hgvs_c": "c.61C>A",
"hgvs_p": "p.Leu21Ile",
"transcript": "ENST00000910749.1",
"protein_id": "ENSP00000580808.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 363,
"cds_start": 61,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910749.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1GALT1",
"gene_hgnc_id": 24337,
"hgvs_c": "c.61C>A",
"hgvs_p": "p.Leu21Ile",
"transcript": "ENST00000910750.1",
"protein_id": "ENSP00000580809.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 363,
"cds_start": 61,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910750.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1GALT1",
"gene_hgnc_id": 24337,
"hgvs_c": "c.61C>A",
"hgvs_p": "p.Leu21Ile",
"transcript": "ENST00000910751.1",
"protein_id": "ENSP00000580810.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 363,
"cds_start": 61,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910751.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1GALT1",
"gene_hgnc_id": 24337,
"hgvs_c": "c.61C>A",
"hgvs_p": "p.Leu21Ile",
"transcript": "ENST00000910752.1",
"protein_id": "ENSP00000580811.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 363,
"cds_start": 61,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910752.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1GALT1",
"gene_hgnc_id": 24337,
"hgvs_c": "c.61C>A",
"hgvs_p": "p.Leu21Ile",
"transcript": "ENST00000910753.1",
"protein_id": "ENSP00000580812.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 363,
"cds_start": 61,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910753.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1GALT1",
"gene_hgnc_id": 24337,
"hgvs_c": "c.61C>A",
"hgvs_p": "p.Leu21Ile",
"transcript": "ENST00000910754.1",
"protein_id": "ENSP00000580813.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 363,
"cds_start": 61,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910754.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1GALT1",
"gene_hgnc_id": 24337,
"hgvs_c": "c.61C>A",
"hgvs_p": "p.Leu21Ile",
"transcript": "ENST00000910755.1",
"protein_id": "ENSP00000580814.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 363,
"cds_start": 61,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910755.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1GALT1",
"gene_hgnc_id": 24337,
"hgvs_c": "c.61C>A",
"hgvs_p": "p.Leu21Ile",
"transcript": "ENST00000910756.1",
"protein_id": "ENSP00000580815.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 363,
"cds_start": 61,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910756.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1GALT1",
"gene_hgnc_id": 24337,
"hgvs_c": "c.61C>A",
"hgvs_p": "p.Leu21Ile",
"transcript": "ENST00000910757.1",
"protein_id": "ENSP00000580816.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 363,
"cds_start": 61,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910757.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1GALT1",
"gene_hgnc_id": 24337,
"hgvs_c": "c.61C>A",
"hgvs_p": "p.Leu21Ile",
"transcript": "ENST00000910758.1",
"protein_id": "ENSP00000580817.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 363,
"cds_start": 61,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
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}