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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: 2-230178157-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=230178157&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 230178157,
"ref": "C",
"alt": "A",
"effect": "stop_gained,splice_region_variant",
"transcript": "NM_001378442.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1447G>T",
"hgvs_p": "p.Gly483*",
"transcript": "NM_080424.4",
"protein_id": "NP_536349.3",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 713,
"cds_start": 1447,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000258381.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080424.4"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1447G>T",
"hgvs_p": "p.Gly483*",
"transcript": "ENST00000258381.11",
"protein_id": "ENSP00000258381.6",
"transcript_support_level": 2,
"aa_start": 483,
"aa_end": null,
"aa_length": 713,
"cds_start": 1447,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_080424.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258381.11"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1447G>T",
"hgvs_p": "p.Gly483*",
"transcript": "ENST00000358662.9",
"protein_id": "ENSP00000351488.4",
"transcript_support_level": 1,
"aa_start": 483,
"aa_end": null,
"aa_length": 689,
"cds_start": 1447,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358662.9"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1447G>T",
"hgvs_p": "p.Gly483*",
"transcript": "ENST00000258382.10",
"protein_id": "ENSP00000258382.5",
"transcript_support_level": 1,
"aa_start": 483,
"aa_end": null,
"aa_length": 549,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258382.10"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1441G>T",
"hgvs_p": "p.Gly481*",
"transcript": "ENST00000392048.7",
"protein_id": "ENSP00000375902.3",
"transcript_support_level": 1,
"aa_start": 481,
"aa_end": null,
"aa_length": 547,
"cds_start": 1441,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392048.7"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1465G>T",
"hgvs_p": "p.Gly489*",
"transcript": "NM_001378442.1",
"protein_id": "NP_001365371.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 745,
"cds_start": 1465,
"cds_end": null,
"cds_length": 2238,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378442.1"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1447G>T",
"hgvs_p": "p.Gly483*",
"transcript": "NM_001378443.1",
"protein_id": "NP_001365372.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 739,
"cds_start": 1447,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378443.1"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1465G>T",
"hgvs_p": "p.Gly489*",
"transcript": "NM_001378444.1",
"protein_id": "NP_001365373.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 719,
"cds_start": 1465,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378444.1"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1465G>T",
"hgvs_p": "p.Gly489*",
"transcript": "NM_001378445.1",
"protein_id": "NP_001365374.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 695,
"cds_start": 1465,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378445.1"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1447G>T",
"hgvs_p": "p.Gly483*",
"transcript": "NM_004509.5",
"protein_id": "NP_004500.4",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 689,
"cds_start": 1447,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004509.5"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1447G>T",
"hgvs_p": "p.Gly483*",
"transcript": "ENST00000897327.1",
"protein_id": "ENSP00000567386.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 689,
"cds_start": 1447,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897327.1"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1447G>T",
"hgvs_p": "p.Gly483*",
"transcript": "ENST00000948170.1",
"protein_id": "ENSP00000618229.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 666,
"cds_start": 1447,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948170.1"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1465G>T",
"hgvs_p": "p.Gly489*",
"transcript": "NM_001378446.1",
"protein_id": "NP_001365375.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 648,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378446.1"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1447G>T",
"hgvs_p": "p.Gly483*",
"transcript": "ENST00000897325.1",
"protein_id": "ENSP00000567384.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 642,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897325.1"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1297G>T",
"hgvs_p": "p.Gly433*",
"transcript": "ENST00000897328.1",
"protein_id": "ENSP00000567387.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 639,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897328.1"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1447G>T",
"hgvs_p": "p.Gly483*",
"transcript": "ENST00000931303.1",
"protein_id": "ENSP00000601362.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 633,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931303.1"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1297G>T",
"hgvs_p": "p.Gly433*",
"transcript": "ENST00000948168.1",
"protein_id": "ENSP00000618227.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 616,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948168.1"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1297G>T",
"hgvs_p": "p.Gly433*",
"transcript": "ENST00000897326.1",
"protein_id": "ENSP00000567385.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 592,
"cds_start": 1297,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897326.1"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1465G>T",
"hgvs_p": "p.Gly489*",
"transcript": "NM_001185015.2",
"protein_id": "NP_001171944.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 555,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001185015.2"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1465G>T",
"hgvs_p": "p.Gly489*",
"transcript": "ENST00000540870.5",
"protein_id": "ENSP00000439558.1",
"transcript_support_level": 2,
"aa_start": 489,
"aa_end": null,
"aa_length": 555,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540870.5"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
"hgvs_c": "c.1447G>T",
"hgvs_p": "p.Gly483*",
"transcript": "NM_004510.4",
"protein_id": "NP_004501.4",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 549,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004510.4"
},
{
"aa_ref": "G",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SP110",
"gene_hgnc_id": 5401,
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}